第 1 到 433 筆結果,共 433 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2024 | Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights | HUI-AN CHEN ; Hsu, Rai Hseng; Chen, Li Chu; NI-CHUNG LEE ; Chiu, Pao Chin; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | |||
2 | 2024 | Gene therapy corrects the neurological deficits of mice with sialidosis | WUH-LIANG HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN | Gene therapy | |||
3 | 2024 | Ethnically unique disease burden and limitations of current expanded carrier screening panels | CHIH-LING CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung, Miao-Zi; Lin, Yi-Lin; SHIN-YU LIN ; CHIEN-NAN LEE | International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics | 0 | 0 | |
4 | 2023 | Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency | Hsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN | Orphanet journal of rare diseases | |||
5 | 2023 | Curated incidence of lysosomal storage diseases from the Taiwan Biobank | Tsai, Meng-Ju Melody; Hung, Miao-Zi; Lin, Yi-Lin; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | NPJ genomic medicine | 0 | 0 | |
6 | 2023 | Changing clinical manifestations of Gaucher disease in Taiwan | Lu, Wen-Li; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG HWU ; Chou, Yen-Yin; Chu, Shao-Yin; MENG-JU LI ; Lee, An-Ju; Liao, Chao-Chuan; Wang, Chung-Hsing; NI-CHUNG LEE | Orphanet journal of rare diseases | 0 | 0 | |
7 | 2023 | Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency | Chen, Pin-Wen; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Molecular genetics and metabolism | 1 | 0 | |
8 | 2023 | Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases | Chen, Chi-Bo; Jacob Shujui Hsu ; PEI-LUNG CHEN ; JIA-FENG WU ; Li, Huei-Ying; Liou, Bang-Yu; MEI-HWEI CHANG ; YEN-HSUAN NI ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chou, Yen-Yin; Yang, Yao-Jong; NI-CHUNG LEE ; HUEY-LING CHEN | The Journal of Pediatrics | 1 | 0 | |
9 | 2023 | Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C | Chen, Tsu-I; Hsu, Pei-Chun; NI-CHUNG LEE ; Liu, Yu-Han; Wang, Hao-Chun; Lu, Yen-Hsu; YIN-HSIU CHIEN ; WUH-LIANG HWU | Heliyon | 0 | 0 | |
10 | 2023 | Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia | Hsu, Rai-Hseng; HUI-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lin, Ju-Li; Weng, Hui-Ling; Lin, Yi-Ting; Lin, Yu-Ching; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |
11 | 2023 | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | Hsu, Rai-Hseng; Lee, Chen-Hao; YIN-HSIU CHIEN ; Lin, Shuan-Pei; Hung, Miao-Zi; Chen, Nai-Chi; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |
12 | 2023 | Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study | Fan, Sung-Pin; Kuo, Yih-Chih; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang, Yu-Hsuan; Lin, Han-I; TAI-CHUNG TSENG ; TUNG-HUNG SU ; SHIOU-RU TZENG ; Hsu, Chien-Ting; HUEY-LING CHEN ; CHIN-HSIEN LIN ; YEN-HSUAN NI | Journal of Movement Disorders | 2 | ||
13 | 2023 | A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7 | Lee, Chee-Seng; YEN-HSUAN NI ; HUEY-LING CHEN ; JIA-FENG WU ; HONG-YUAN HSU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; TING-AN YEN ; Chua, Huey-Huey; Chen, Yu-Ju; Wang, Yu-Lin; MEI-HWEI CHANG | Journal of pediatric gastroenterology and nutrition | 6 | 3 | |
14 | 2023 | Occurrence of sotos syndrome and coffin-siris syndrome in a family | HUI-AN CHEN ; Chen, Nai-Qi; Hsu, Rai-Hseng; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
15 | 2023 | An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism | Wang, San-Yuan; TE-I WENG ; Chen, Ju-Yu; NI-CHUNG LEE ; Lee, Kun-Chen; Lai, Mei-Ling; YIN-HSIU CHIEN ; WUH-LIANG HWU ; GUAN-YUAN CHEN | Clinica chimica acta; international journal of clinical chemistry | 0 | 0 | |
16 | 2023 | New era in the diagnosis and treatment of pediatric genetic diseases | WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
17 | 2023 | Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect | Chou, Chien-Chih; PO-JEN SHIH ; TZUU-SHUH JOU ; Hsu, Min-Yen; Chen, Jun-Peng; Hsu, Rai-Hseng; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; I-JONG WANG | Translational vision science & technology | 3 | 1 | |
18 | 2023 | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | Hsu, Yu-Kang; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; Po-Yu Huang, Eric; WEN-CHIN WENG | Genetics in medicine : official journal of the American College of Medical Genetics | 6 | 4 | |
19 | 2023 | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | Chen, Pin-Shiuan; CHI-CHAO CHAO ; LI-KAI TSAI ; Huang, Hsin-Yi; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; NI-CHUNG LEE ; HSUEH-WEN HSUEH ; Chih-Chao Yang | Journal of neuromuscular diseases | 1 | 1 | |
20 | 2022 | Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease | Li, Huang-Yi; NI-CHUNG LEE ; Chiu, Yu-Ting; Chang, Yu-Wen; Lin, Chu-Chung; Chou, Cheng-Li; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Cheng, Wei-Chieh | Bioorganic & medicinal chemistry | 2 | 0 | |
21 | 2022 | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | HSUEH-WEN HSUEH ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; FENG-JUNG YANG ; WANG-TSO LEE ; Lin, Ru-Jen; WUH-LIANG HWU ; Chih-Chao Yang ; NI-CHUNG LEE | Journal of the Formosan Medical Association = Taiwan yi zhi | 1 | 1 | |
22 | 2022 | The modern face of newborn screening | YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 3 | 2 | |
23 | 2022 | A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome | Chu, Chia-Mei; HSIN-HUI YU ; Kao, Tsai-Ling; Chen, Yi-Hsuan; Lu, Hsuan-Hsuan; EN-TING WU ; Yang, Yun-Li; CHIN-HSIEN LIN ; SHIN-YU LIN ; Tsai, Meng-Ju Melody; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-PIN CHEN ; NI-CHUNG LEE ; CHI-KANG TSENG | NPJ genomic medicine | 2 | 2 | |
24 | 2022 | Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy | Hsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
25 | 2022 | Asymptomatic ASS1 carriers with high blood citrulline levels | HUI-AN CHEN ; Hsu, Rai-Hseng; Chang, Kai-Ling; Huang, Yi-Chen; Chiang, Yun-Chen; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu, Pao-Chin; YIN-HSIU CHIEN | Molecular genetics & genomic medicine | 2 | 1 | |
26 | 2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 5 | 5 | |
27 | 2022 | Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | Tsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; YI-CHING TUNG | Journal of the Formosan Medical Association = Taiwan yi zhi | 2 | 2 | |
28 | 2022 | Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening | NI-CHUNG LEE ; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG HWU ; YIN-HSIU CHIEN | The Journal of pediatrics | 7 | 3 | |
29 | 2022 | Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization | Huang, Yu-Shan; Hsu, Ching; Chune, Yu-Chang; Liao, I-Cheng; Wang, Hsin; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE ; FEI-PEI LAI | JMIR Bioinformatics and Biotechnology | 0 | 0 | |
30 | 2022 | Advanced therapeutic strategy for hereditary neuromuscular diseases | WUH-LIANG HWU ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Byrne B.J. | Molecular therapy : the journal of the American Society of Gene Therapy | 1 | 1 | |
31 | 2022 | Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; WEN-CHIN WENG ; Chen L.-C.; Huang Y.-H.; Wu C.-S.; WUH-LIANG HWU | Neurological Sciences | 14 | 10 | |
32 | 2022 | Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience | Cho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; Huang, Shu-Yuan; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YI-CHING TUNG | Journal of the Formosan Medical Association | 10 | 7 | |
33 | 2022 | Reduced Immunogenicity of Intraparenchymal Delivery of Adeno-Associated Virus Serotype 2 Vectors: Brief Overview | WUH-LIANG HWU ; Muramatsu, Shin-Ichi; Gidoni-Ben-Zeev, Bruria | Current gene therapy | 2 | 2 | |
34 | 2022 | Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome | Lin, Han-Yi; Tsai, Wen-Yu; YI-CHING TUNG ; SHIH-YAO LIU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHENG-TING LEE | Frontiers in endocrinology | 3 | 2 | |
35 | 2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
36 | 2022 | Comparison of GATK and DeepVariant by trio sequencing | Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; YIN-HSIU CHIEN ; WUH-LIANG HWU ; FEI-PEI LAI ; NI-CHUNG LEE | Scientific reports | 18 | 13 | |
37 | 2022 | High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan | HUI-AN CHEN ; Hsu, Rai-Hseng; Chen, Pin-Wen; NI-CHUNG LEE ; Chiu P.-C.; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | 7 | 4 | |
38 | 2022 | Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency | Tai, Chun-Hwei; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG ; WUH-LIANG HWU | Molecular therapy : the journal of the American Society of Gene Therapy | 48 | 44 | |
39 | 2021 | Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness | Cheng, Chang-Yu; Chang, Kai-Chieh; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; PEI-HSIN HUANG ; Chih-Chao Yang ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | Neurology: Clinical Practice | 1 | 1 | |
40 | 2021 | Molecular analysis of vietnamese patients with mucopolysaccharidosis type i | Can N.T.B.; Tran D.M.; Bui T.P.; Nguyen K.N.; Nguyen H.H.; Nguyen T.V.; WUH-LIANG HWU ; Tomatsu S.; Vu D.C. | Life | 0 | 0 | |
41 | 2021 | A novel deep intronic variant strongly associates with Alkaptonuria | Lai C.-Y.; I-JUNG TSAI ; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN ; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU ; NI-CHUNG LEE | npj Genomic Medicine | 5 | 5 | |
42 | 2021 | A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease | Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN | Scientific Reports | 1 | 1 | |
43 | 2021 | Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease | WUH-LIANG HWU ; Kiening, Karl; Anselm, Irina; Compton, David R; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-Ichi | EMBO Molecular Medicine | 17 | 17 | |
44 | 2021 | Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma | Ramaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU ; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M. | Molecular Genetics and Metabolism | 14 | 9 | |
45 | 2021 | Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy | CHIH-LING CHEN ; CHIEN-NAN LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang T.-M.; NI-CHUNG LEE | Children | 3 | 3 | |
46 | 2021 | STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa | Gutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN ; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; WUH-LIANG HWU ; Toscano A.; Schoser B. | Journal of Neurology | 15 | 13 | |
47 | 2021 | CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening | WEN-CHIN WENG ; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Genetics in medicine : official journal of the American College of Medical Genetics | 13 | 8 | |
48 | 2021 | Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios | SHIN-YU LIN ; GWO-TSANN CHUANG ; Hung C.-H.; WEI-CHOU LIN ; YUNG-MING JENG ; TING-AN YEN ; Chang K.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIEN-NAN LEE ; I-JUNG TSAI ; NI-CHUNG LEE | Frontiers in Genetics | 1 | 1 | |
49 | 2021 | RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients | Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN ; Wang Y.-T.; WUH-LIANG HWU ; NI-CHUNG LEE | Scientific Data | 3 | 3 | |
50 | 2021 | Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases | Kubaski F.; Herbst Z.M.; Pereira D.A.A.; Silva C.; Chen C.; WUH-LIANG HWU ; van der Linden H.; Louren?o C.M.; Giugliani R. | Molecular Genetics and Metabolism Reports | 4 | 4 | |
51 | 2020 | Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing | HSIAO-LIN HWA ; MING-YIH WU ; JAMES CHUN-I LEE ; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; WUH-LIANG HWU ; Su, Chih-Wen | Legal medicine (Tokyo, Japan) | 9 | 7 | |
52 | 2020 | Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma | Weng, Hui-Ling; FENG-JUNG YANG ; YIN-HSIU CHIEN ; PEY-RONG CHEN ; Lin, Zi-Xuan; NI-CHUNG LEE ; WUH-LIANG HWU | Journal of nephrology | 0 | 0 | |
53 | 2020 | Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences | YIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 28 | 26 | |
54 | 2020 | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes | Kuo C.-W.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.; Hung M.-Z.; Lin I.-L.; FEI-PEI LAI ; NI-CHUNG LEE | Molecular Genetics and Genomic Medicine | 9 | 9 | |
55 | 2020 | Complications of erythropoietin in navigated brain gene therapy: A case report | SHENG-HONG TSENG ; CHUN-HWEI TAI ; WUH-LIANG HWU | Interdisciplinary Neurosurgery: Advanced Techniques and Case Management | 1 | 1 | |
56 | 2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
57 | 2020 | Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome | Fang W.-Q.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE ; MING-JANG CHIU | ACS Chemical Neuroscience | 4 | 4 | |
58 | 2020 | Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU | Orphanet Journal of Rare Diseases | 38 | 38 | |
59 | 2020 | Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center | Liu M.-Y.; CHENG-TING LEE ; NI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y. | Journal of the Formosan Medical Association | 3 | 0 | |
60 | 2020 | Diversity in heritable disorders of connective tissue at a single center | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Connective Tissue Research | 4 | 2 | |
61 | 2020 | De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome | Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN ; Tu Y.-F.; Chou Y.-Y.; WUH-LIANG HWU ; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE | Human Mutation | 2 | 2 | |
62 | 2020 | Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in Taiwan | Chang H.-Y.; WUH-LIANG HWU ; Chen C.-H.; Hou C.-Y.; Cheng W. | Frontiers in Pediatrics | 14 | 12 | |
63 | 2020 | Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort | Chen, Szu-Ju; BO-CHING LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 0 | 0 | |
64 | 2020 | Development of newborn screening for pompe disease | WUH-LIANG HWU ; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 0 | 0 | |
65 | 2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN | Scientific Reports | 2 | 2 | |
66 | 2020 | Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan | Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chuang C.-K.; MEI-HWAN WU ; JOU-KOU WANG ; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. | American Journal of Medical Genetics, Part A | 7 | 7 | |
67 | 2020 | Towards a reference genome that captures global genetic diversity | Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE ; WUH-LIANG HWU ; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan | Nature Communications | 15 | 16 | |
68 | 2020 | Dietary intake and nutritional status of patients with phenylketonuria in Taiwan | Weng, Hui-Ling; FENG-JUNG YANG ; PEY-RONG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Scientific reports | 4 | 3 | |
69 | 2020 | Modified frameless stereotactic system for intracerebral delivery of viral vector in young children | CHUN-HWEI TAI ; WUH-LIANG HWU ; RUEY-MEEI WU ; SHENG-HONG TSENG | Operative Neurosurgery | 0 | 0 | |
70 | 2020 | REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample | NI-CHUNG LEE ; WEI-CHUNG HSU ; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG HWU ; PEI-LIN LEE | Journal of the Formosan Medical Association | 14 | 14 | |
71 | 2020 | Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) | Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. | Orphanet Journal of Rare Diseases | 16 | 13 | |
72 | 2020 | Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant | Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU ; Wang P.-J.; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 7 | 5 | |
73 | 2019 | Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese | Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; NI-CHUNG LEE ; Fung C.-W.; Chung B.H.-Y. | npj Genomic Medicine | 27 | 23 | |
74 | 2019 | High incidence of co-existing GLA variants and stroke susceptibility | YIN-HSIU CHIEN ; WUH-LIANG HWU | European Journal of Neurology | 0 | 0 | |
75 | 2019 | Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs | Hsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG ; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE | Pediatrics and Neonatology | 2 | 2 | |
76 | 2019 | A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 13 | 9 | |
77 | 2019 | Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population | Chen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | Brain and Behavior | 10 | 7 | |
78 | 2019 | Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Ke, Yu-Yuan; Hsu, Chia-Chi; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; Lin, Ju-Li; SHAU-PING LIN | Pediatrics and Neonatology | 8 | 6 | |
79 | 2019 | Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases | Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU ; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium | Journal of Inherited Metabolic Disease | 34 | 26 | |
80 | 2019 | Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes | Simon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S.; WUH-LIANG HWU ; Taft R.J.; Benke P.J.; Abdenur J.E. | Molecular Genetics and Metabolism | 36 | 26 | |
81 | 2019 | Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum | CHENG-TING LEE ; YI-CHING TUNG ; WUH-LIANG HWU ; JIN-CHUNG SHIH ; WEN-HSI LIN ; MU-ZON WU ; KUAN-TING KUO ; YUNG-LI YANG ; HUEY-LING CHEN ; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU ; Tsai W.-Y.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 5 | 5 | |
82 | 2019 | Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency | HSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 5 | 4 | |
83 | 2019 | Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency | Ho S.-Y.; YIN-HSIU CHIEN ; LI-KAI TSAI ; Muramatsu S.-I.; WUH-LIANG HWU ; HORNG-HUEI LIOU ; NI-CHUNG LEE | Frontiers in Cellular Neuroscience | 2 | 2 | |
84 | 2019 | Clinical features of Pompe disease with motor neuronopathy | LI-KAI TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE ; PEI-HSIN HUANG ; YIN-HSIU CHIEN | Neuromuscular Disorders | 9 | 7 | |
85 | 2019 | Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia | JYH-MING JIMMY JUANG ; CHIA-TUNG SHUN ; YIH-SHARNG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN | Genetics in Medicine | 2 | 1 | |
86 | 2019 | Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments | Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 9 | 7 | |
87 | 2019 | Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD | Journal of Inherited Metabolic Disease | 33 | 21 | |
88 | 2019 | Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups | Chu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; REY-HENG HU ; MING-CHIH HO ; Niu D.-M. | Orphanet Journal of Rare Diseases | 24 | 21 | |
89 | 2019 | Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD | Molecular Genetics and Metabolism | 25 | 20 | |
90 | 2019 | Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE | Orphanet Journal of Rare Diseases | 16 | 14 | |
91 | 2019 | Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) | Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M. | Molecular Genetics and Metabolism | 48 | 41 | |
92 | 2019 | Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency | Tseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU | Annals of Neurology | 20 | 18 | |
93 | 2019 | Congenital generalized lipodystrophy in Taiwan | Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 11 | 8 | |
94 | 2019 | Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses | Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 10 | 11 | |
95 | 2019 | Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses | Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P. | Diagnostics | 12 | 11 | |
96 | 2019 | Functional independence of Taiwanese patients with mucopolysaccharidoses | Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU ; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 4 | 4 | |
97 | 2019 | Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study | Whyte M.P.; Leung E.; Wilcox W.R.; Liese J.; Argente J.; Martos-Moreno G.?.; Reeves A.; Fujita K.P.; Moseley S.; Hofmann C.; Beck M.; DiMeglio L.; WUH-LIANG HWU ; Simm P.; Simmons J.; Steelman J.; Steiner R.D.; Superti-Furga A.; Study 011-10 Investigators | Journal of Pediatrics | 38 | 25 | |
98 | 2019 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study | De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU ; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Butterfield R.J.; Topaloglu H.; Ben-Omran T.; Sansone V.A.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group | Neuromuscular Disorders | 383 | 307 | |
99 | 2019 | Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? | EN-TING WU ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; PI-CHUAN FAN ; I-JUNG TSAI ; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; CHI-NIEN CHEN ; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; FEI-PEI LAI ; NI-CHUNG LEE | Pediatric Critical Care Medicine | 27 | 23 | |
100 | 2018 | Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9) | Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Arnoux J.-B.; Bari? I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; Laet C.; Lindner M.; Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium | Journal of Inherited Metabolic Disease | 0 | 0 | |
101 | 2018 | Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan | YI-CHING TUNG ; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; WEI-SHIUNG YANG ; WUH-LIANG HWU ; PEI-LUNG CHEN ; Tsai W.-Y. | Pediatric Diabetes | 7 | 6 | |
102 | 2018 | Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8) | Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN ; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU ; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium | Journal of Inherited Metabolic Disease | 2 | 0 | |
103 | 2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
104 | 2018 | Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening | SHIH-YAO LIU ; CHENG-TING LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y. | Journal of the Formosan Medical Association | 10 | 11 | |
105 | 2018 | Biparental inheritance of mitochondrial DNA in humans | Luo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 263 | 227 | |
106 | 2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
107 | 2018 | Management of Leigh syndrome: Current status and new insights | Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU ; Lian Q. | Clinical Genetics | 16 | 12 | |
108 | 2018 | Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period | Lin H.-Y.; Chuang C.-K.; Lee C.-L.; Tu R.-Y.; Lo Y.-T.; Chiu P.C.; Niu D.-M.; Fang Y.-Y.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Chang T.-M.; Lin S.-P. | American Journal of Medical Genetics, Part A | 24 | 23 | |
109 | 2018 | Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center | Lin C.-J.; YIN-HSIU CHIEN ; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU ; Wu C.-J. | Kidney and Blood Pressure Research | 22 | 19 | |
110 | 2018 | SHOX deficiency in short Taiwanese children: A single-center experience | YI-CHING TUNG ; NI-CHUNG LEE ; WUH-LIANG HWU ; SHIH-YAO LIU ; CHENG-TING LEE ; YIN-HSIU CHIEN ; Tsai W.-Y. | Journal of the Formosan Medical Association | 2 | 2 | |
111 | 2018 | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS) | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 11 | 11 | |
112 | 2018 | Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease | Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 15 | 0 | |
113 | 2018 | Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment? | YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; Fang J.-Y. | European Journal of Neurology | 5 | 4 | |
114 | 2017 | Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10 | Cheng W.; Huang P.-C.; Chao H.-M.; YUNG-MING JENG ; Hsu H.-C.; Pan H.-W.; WUH-LIANG HWU ; Lee Y.-M. | Oncotarget | 10 | 11 | |
115 | 2017 | A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Neurology and Therapy | 17 | 0 | |
116 | 2017 | Newborn screening for severe combined immunodeficiency in Taiwan | YIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU | International Journal of Neonatal Screening | 38 | 0 | |
117 | 2017 | Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. | Molecular Genetics and Metabolism Reports | 9 | 8 | |
118 | 2017 | Management of confirmed newborn-screened patients with pompe disease across the disease spectrum | Kronn D.F.; Day-Salvatore D.; WUH-LIANG HWU ; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S. | Pediatrics | 42 | 30 | |
119 | 2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Pediatrics | 115 | 91 | |
120 | 2017 | Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement | Kishnani P.S.; WUH-LIANG HWU | Pediatrics | 10 | 6 | |
121 | 2017 | Gene therapy with modified U1 small nuclear RNA | WUH-LIANG HWU ; Lee Y.-M.; NI-CHUNG LEE | Expert Review of Endocrinology and Metabolism | 3 | 0 | |
122 | 2017 | Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial | YIN-HSIU CHIEN ; NI-CHUNG LEE ; SHENG-HONG TSENG ; CHUN-HWEI TAI ; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU | The Lancet Child and Adolescent Health | 95 | 88 | |
123 | 2017 | Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease | Zeng Y.-T.; WUH-LIANG HWU ; Torng P.-C.; NI-CHUNG LEE ; JENG-YI SHIEH ; LU LU ; YIN-HSIU CHIEN | European Journal of Paediatric Neurology | 13 | 12 | |
124 | 2017 | Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease | Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Chen Y.-T.; Wu J.-Y. | Molecular Genetics and Metabolism | 8 | 7 | |
125 | 2017 | The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease | Burton B.K.; Kronn D.F.; WUH-LIANG HWU ; Kishnani P.S. | Pediatrics | 28 | 13 | |
126 | 2017 | Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease | NI-CHUNG LEE ; MING-JANG CHIU et al. ; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU ; Huang A.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chiu M.-J. | Frontiers in Aging Neuroscience | 44 | 36 | |
127 | 2017 | Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency | McGovern M.M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Eugen Mengel K.; Mistry P.K.; Schuchman E.H.; Wasserstein M.P. | Genetics in Medicine | 64 | 57 | |
128 | 2016 | Advances in newborn screening for Pompe disease and resulting clinical outcomes | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Expert Opinion on Orphan Drugs | 0 | 0 | |
129 | 2016 | Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; YIN-HSIU CHIEN ; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; WUH-LIANG HWU ; Ke, Yu-Yuan; SHAU-PING LIN | Molecular Genetics and Metabolism Reports | 21 | 18 | |
130 | 2016 | Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 22 | 24 | |
131 | 2016 | Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; WUH-LIANG HWU ; Lin, Ju-Li; SHAU-PING LIN | Molecular Genetics and Metabolism | 33 | 32 | |
132 | 2016 | Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders | Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cortès-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; Häberle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; Kölker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Grünewald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; Mühlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Peña-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M. | Journal of Inherited Metabolic Disease | 55 | 47 | |
133 | 2016 | Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency | Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN ; WUH-LIANG HWU | European Journal of Medicinal Chemistry | 15 | 13 | |
134 | 2016 | Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme | STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN | Orphanet Journal of Rare Diseases | 17 | 19 | |
135 | 2016 | Long-term outcome for Down syndrome patients with hematopoietic disorders | MENG-JU LI ; NI-CHUNG LEE ; YUNG-LI YANG ; Yen H.-J.; HSIU-HAO CHANG ; YIN-HSIU CHIEN ; MENG-YAO LU ; SHIANN-TANG JOU ; Lin K.-H.; WUH-LIANG HWU ; Lin D.-T. | Journal of the Formosan Medical Association | 5 | 4 | |
136 | 2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | YIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. | Molecular Genetics and Metabolism | 51 | 42 | |
137 | 2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
138 | 2016 | Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene | NI-CHUNG LEE ; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU | Human Molecular Genetics | 18 | 16 | |
139 | 2016 | Hypothermia improves disease manifestations in SMA mice via SMN augmentation | LI-KAI TSAI ; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN ; Lee N.-C.; WUH-LIANG HWU | Human Molecular Genetics | 4 | 4 | |
140 | 2015 | Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening | YIN-HSIU CHIEN ; Goldstein J.L.; WUH-LIANG HWU ; Smith P.B.; NI-CHUNG LEE ; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P. | JIMD Reports | 29 | 0 | |
141 | 2015 | Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth | YIN-HSIU CHIEN ; NI-CHUNG LEE ; CHUN-AN CHEN ; Tsai, Fuu-Jen; Tsai, Wen-Hui; JENG-YI SHIEH ; Huang, Hsiang-Ju; WEI-CHUNG HSU ; TZU-HSUN TSAI ; WUH-LIANG HWU | Journal of Pediatrics | 105 | 89 | |
142 | 2015 | Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation | Hsiue H.-C.; NI-CHUNG LEE ; Tsai H.-B.; Yang C.-C.; Wu C.-S.; WANG-TSO LEE ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE | Intensive Care Medicine | 1 | 1 | |
143 | 2015 | Incidence of severe combined immunodeficiency through newborn screening in a Chinese population | YIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU ; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 56 | 37 | |
144 | 2015 | Congenital malformations in newborns - A challenge unmet for decades | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and Neonatology | 1 | 1 | |
145 | 2015 | Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency | NI-CHUNG LEE ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Molecular Therapy | 21 | 19 | |
146 | 2015 | Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes | YIN-HSIU CHIEN ; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU ; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J. | Orphanet Journal of Rare Diseases | 35 | 26 | |
147 | 2015 | Pincer nail deformity as the main manifestation of Clouston syndrome | Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU ; Lee Y.-M. | British Journal of Dermatology | 7 | 7 | |
148 | 2014 | Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta | Lin C.-H.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Tsai W.-Y.; YI-CHING TUNG ; CHENG-TING LEE ; Chien C.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 9 | 8 | |
149 | 2014 | Outcome of early-treated type III Gaucher disease patients | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU | Blood Cells, Molecules, and Diseases | 22 | 18 | |
150 | 2014 | Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots | Chen P.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU | Clinica Chimica Acta | 29 | 27 | |
151 | 2014 | The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients | Feeney E.J.; Austin S.; YIN-HSIU CHIEN ; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU ; Ralston E.; Kishnani P.S.; Raben N. | Acta Neuropathologica Communications | 48 | 46 | |
152 | 2014 | Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism | I-JUNG TSAI ; WUH-LIANG HWU ; SHU-CHIEN HUANG ; NI-CHUNG LEE ; EN-TING WU ; YIN-HSIU CHIEN ; Tsau Y.-K. | Pediatric Nephrology | 14 | 13 | |
153 | 2014 | Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype | Lee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN ; WUH-LIANG HWU | JIMD Reports | 30 | 0 | |
154 | 2014 | Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA | Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P. | Orphanet Journal of Rare Diseases | 25 | 25 | |
155 | 2014 | Parental discussion of G6PD deficiency and child health: Implications for clinical practice | Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Archives of Disease in Childhood | 1 | 1 | |
156 | 2014 | A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy | Giugliani R.; WUH-LIANG HWU ; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A. | Genetics in Medicine | 32 | 30 | |
157 | 2014 | Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wang S.-F.; Chiang S.-C.; Hsu L.-W. | Topics in Current Chemistry | 6 | 5 | |
158 | 2014 | Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Human Gene Therapy | 15 | 15 | |
159 | 2014 | Mutant EXT1 in Taiwanese patients with multiple hereditary exostoses | Lin W.-D.; WUH-LIANG HWU ; Wang C.-H.; Tsai F.-J. | BioMedicine (Netherlands) | 1 | 0 | |
160 | 2014 | Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Muscle and Nerve | 6 | 6 | |
161 | 2014 | Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice | LI-KAI TSAI ; Chen C.-L.; Ting C.-H.; Lin-Chao S.; WUH-LIANG HWU ; Dodge J.C.; Passini M.A.; Cheng S.H. | Molecular Therapy | 41 | 36 | |
162 | 2013 | AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients | WUH-LIANG HWU ; NI-CHUNG LEE ; Shieh Y.-D.; KAI-YUAN TZEN ; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN | Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012 | 0 | 0 | |
163 | 2013 | Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 0 | 1 | |
164 | 2013 | AADC deficiency. Occurring in humans, modeled in rodents. | WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Muramatsu S.-I.; Ichinose H. | Advances in Pharmacology | 12 | 9 | |
165 | 2013 | The Ethical Issues and National Policy in Population-based Genetic Screening | DANIEL FU-CHANG TSAI ; Chung L.-Y.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Formosan Journal of Medicine | 0 | 0 | |
166 | 2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 26 | 24 | |
167 | 2013 | Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin | Wang J.; Cui H.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W. | Genetics in Medicine | 64 | 47 | |
168 | 2013 | Diagnosing mucopolysaccharidosis IVA | Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN ; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J. | Journal of Inherited Metabolic Disease | 74 | 71 | |
169 | 2013 | Analysis of lyso-globotriaosylsphingosine in dried blood spots | Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN ; Maródi L.; WUH-LIANG HWU ; Bodamer O.A. | Annals of Laboratory Medicine | 27 | 24 | |
170 | 2013 | Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease | YIN-HSIU CHIEN ; DER-SHENG HAN ; WUH-LIANG HWU ; Thurberg B.L.; WEI-SHIUNG YANG | PLoS ONE | 15 | 14 | |
171 | 2013 | Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians | Chen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; FEI-PEI LAI | Journal of Medical Internet Research | 16 | 13 | |
172 | 2013 | Fatty acid oxidation disorders in a chinese population in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU | JIMD Reports | 25 | 0 | |
173 | 2013 | Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation | YIN-HSIU CHIEN ; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 18 | 16 | |
174 | 2013 | Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Yang C.C.; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 34 | |
175 | 2013 | Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency | NI-CHUNG LEE ; Shieh Y.-D.; YIN-HSIU CHIEN ; KAI-YUAN TZEN ; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; WUH-LIANG HWU | Neurobiology of Disease | 33 | 30 | |
176 | 2013 | Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation | Chen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Human Mutation | 13 | 12 | |
177 | 2013 | Lung toxicity of hydroxypropyl-β-cyclodextrin infusion | YIN-HSIU CHIEN ; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism | 28 | 24 | |
178 | 2013 | Promising outcomes in glutaric aciduria type i patients detected by newborn screening | Lee C.-S.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Metabolic Brain Disease | 35 | 26 | |
179 | 2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 131 | 107 | |
180 | 2012 | Newborn screening for phenylketonuria: Machine learning vs clinicians | Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lai F. | Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 2012 | 3 | 0 | |
181 | 2012 | Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU | Molecular medicine (Cambridge, Mass.) | 69 | 59 | |
182 | 2012 | Expert recommendations for the laboratory diagnosis of MPS VI | Wood T.; Bodamer O.A.; Burin M.G.; D'Almeida V.; Fietz M.; Giugliani R.; Hawley S.M.; Hendriksz C.J.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Mendelsohn N.J.; Miller N.; Pasquali M.; Schenone A.; Schoonderwoerd K.; Winchester B.; Harmatz P. | Molecular Genetics and Metabolism | 33 | 31 | |
183 | 2012 | Integrating human genome database into electronic health record with sequence alignment and compression mechanism | Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of Medical Systems | 6 | 5 | |
184 | 2012 | Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system | Chen S.-T.; Su Y.-N.; YEN-HSUAN NI ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chang C.-C.; HUEY-LING CHEN ; MEI-HWEI CHANG | Journal of Pediatrics | 15 | 12 | |
185 | 2012 | Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis | YU-SHIH YANG ; Ma G.-C; IN-CHUNG SHIH ; Chen C.-P; Chou C.-H; Yeh K.-T; Kuo S.-J; Chen T.-H; WUH-LIANG HWU ; Lee T.-H; Chen M. | Ultrasound in Obstetrics and Gynecology | 42 | 27 | |
186 | 2012 | Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer | WEN-HUNG KUO ; PO-HAN LIN ; Huang A.-C.; YIN-HSIU CHIEN ; Liu T.-P.; YEN-SHEN LU ; Bai L.-Y.; Sargeant A.M.; CHING-HUNG LIN ; ANN-LII CHENG ; FON-JOU HSIEH ; WUH-LIANG HWU ; KING-JEN CHANG | Journal of Human Genetics | 19 | 19 | |
187 | 2012 | Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing | Kim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S. | Molecular Genetics and Metabolism | 28 | 24 | |
188 | 2012 | Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome | Wang S.-H.; Chen-Chi Wu ; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU ; Yu I.-S.; Hsu C.-J. | Laryngoscope | 28 | 19 | |
189 | 2012 | Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region | WUH-LIANG HWU ; Okuyama T.; But W.M.; Estrada S.; Gu X.; Hui J.; Kosuga M.; Lin S.-P.; Ngu L.-H.; Shi H.; Tanaka A.; Thong M.-K.; Wattanasirichaigoon D.; Wasant P.; McGill J. | Molecular Genetics and Metabolism | 7 | 5 | |
190 | 2012 | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Hsu L.-W.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 69 | 63 | |
191 | 2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 10 | 9 | |
192 | 2012 | IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice | LI-KAI TSAI ; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; WUH-LIANG HWU ; Cheng S.H.; Passini M.A. | Neurobiology of Disease | 40 | 38 | |
193 | 2012 | Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life? | Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU ; Chu S.-Y. | Tzu Chi Medical Journal | 0 | 0 | |
194 | 2012 | Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax | Yeang C.-H.; Ma G.-C.; JIN-CHUNG SHIH ; YU-SHIH YANG ; Chen C.-P.; Chang S.-P.; Wu S.-H.; Liu C.-S.; Kuo S.-J.; HUNG-CHIEH CHOU ; WUH-LIANG HWU ; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M. | PLoS ONE | 7 | 5 | |
195 | 2012 | An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery | NI-CHUNG LEE ; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Genetic Vaccines and Therapy | 4 | 0 | |
196 | 2012 | Gene therapy for aromatic L-amino acid decarboxylase deficiency | WUH-LIANG HWU ; Muramatsu S.-I.; SHENG-HONG TSENG ; KAI-YUAN TZEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI ; RUEY-MEEI WU | Science Translational Medicine | 188 | 170 | |
197 | 2012 | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU | Pediatric Neurology | 20 | 16 | |
198 | 2012 | Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation | Li S.-C.; WUH-LIANG HWU ; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO ; Chen Y.-T.; NI-CHUNG LEE | Journal of Child Neurology | 13 | 10 | |
199 | 2012 | PSORS2 is due to mutations in CARD14 | Jordan C.T.; Cao L.; Roberson E.D.O.; Pierson K.C.; Yang C.-F.; Joyce C.E.; Ryan C.; Duan S.; Helms C.A.; Liu Y.; Chen Y.; McBride A.A.; WUH-LIANG HWU ; Wu J.-Y.; Chen Y.-T.; Menter A.; Goldbach-Mansky R.; Lowes M.A.; Bowcock A.M. | American Journal of Human Genetics | 327 | 289 | |
200 | 2012 | Enhanced interpretation of newborn screening results without analyte cutoff values | Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Bodamer O.; Dy B.; Torres J.; Zori R.; Cheillan D.; Vianey-Saban C.; Ludvigson D.; Stembridge A.; Bonham J.; Downing M.; Dotsikas Y.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Mei B.; Hoffman G.L. | Genetics in Medicine | 109 | 97 | |
201 | 2011 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification | HSIANG-PO HUANG ; Chen P.-H.; WUH-LIANG HWU ; Chuang C.-Y.; YIN-HSIU CHIEN ; Stone L.; CHUNG-LIANG CHIEN ; Li L.-T.; Chiang S.-C.; HSIN-FU CHEN ; HONG-NERNG HO ; Chen C.-H.; Kuo H.-C. | Human Molecular Genetics | 111 | 105 | |
202 | 2011 | Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease | YIN-HSIU CHIEN ; Olivova P.; Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE ; Keutzer J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 10 | 9 | |
203 | 2011 | Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010 | Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; YIN-HSIU CHIEN ; BOR-LUEN CHIANG ; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; HSIN-HUI YU ; YAO-HSU YANG ; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU ; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. | Immunobiology | 45 | 38 | |
204 | 2011 | Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease | STEVEN SHINN-FORNG PENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU ; WEN-YIH TSENG | Biomedical Engineering - Applications, Basis and Communications | 1 | 1 | |
205 | 2011 | Congenital hypopituitarism due to POU1F1 gene mutation | NI-CHUNG LEE ; Tsai W.-Y.; STEVEN SHINN-FORNG PENG ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 7 | 6 | |
206 | 2011 | A reliable password-based user authentication scheme for web-based human genome database system | Chen W.-H.; Wu Z.-Y.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | IEEE International Conference on Digital Ecosystems and Technologies | 0 | 0 | |
207 | 2011 | Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy | CHUN-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; JOU-KOU WANG ; Chen L.-R.; CHUN-WEI LU ; MING-TAI LIN ; SHUENN-NAN CHIU ; Chiu H.-H.; MEI-HWAN WU | Journal of Cardiac Failure | 27 | 24 | |
208 | 2011 | Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia | Wei S.-H.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; WANG-TSO LEE | Journal of Child Neurology | 11 | 11 | |
209 | 2011 | The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives | Reuser A.J.; Verheijen F.W.; Bali D.; van Diggelen O.P.; Germain D.P.; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Olivova P.; Piraud M.; Wuyts B.; Zhang K.; Keutzer J. | Molecular Genetics and Metabolism | 68 | 62 | |
210 | 2011 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project | McHugh D.M.S.; Cameron C.A.; Abdenur J.E.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Caggana M.; Caldwell S.G.; Camilot M.; Campbell C.; Carducci C.; Cariappa R.; Carlisle C.; Caruso U.; Cassanello M.; Castilla A.M.; Ramos D.E.C.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; YIN-HSIU CHIEN ; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Dy B.; Dymerski M.; Rueda I.; Elvers B.; Eaton R.; Eckerd B.M.; El Mougy F.; Eroh S.; Espada M.; Evans C.; Fawbush S.; Fijolek K.F.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Hassan F.A.; He M.; Hietala A.; Himstedt L.; Hoffman G.L.; Hoffman W.; Hoggatt P.; Hopkins P.V.; Hougaard D.M.; Hughes K.; Hunt P.R.; WUH-LIANG HWU ; Hynes J.; Ibarra-Gonz?lez I.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Lavochkin M.; Lee S.-Y.; Lehotay D.C.; Lemes A.; Lepage J.; Lesko B.; Lewis B.; Lim C.; Linard S.; Lindner M.; Lloyd-Puryear M.A.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Nikoloudis D.; Norgaard-Pedersen B.; Oglesbee D.; Oltarzewski M.; Ombrone D.; Ojodu J.; Papakonstantinou V.; Reoyo S.P.; Park H.-D.; Pasquali M.; Pasquini E.; Patel P.; Pass K.A.; Peterson C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Saban C.; Sahai I.; Garc?a-Blanco M.I.S.; Santiago-Borrero P.; Schenone A.; Schoos R.; Schweitzer B.; Scott P.; Seashore M.R.; Seeterlin M.A.; Sesser D.E.; Sevier D.W.; Shone S.M.; Sinclair G.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Turner K.; Tzanakos N.; Valiente A.G.; Vallance H.; Vela-Amieva M.; Vilarinho L.; Von D?beln U.; Vincent M.-F.; Vorster B.C.; Watson M.S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M. | Genetics in Medicine | 284 | 258 | |
211 | 2011 | Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Journal of Pediatrics | 84 | 70 | |
212 | 2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 39 | 38 | |
213 | 2011 | Preimplantation and prenatal genetic diagnosis of aromatic L-amino aciddecarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction | Kuo S.-J.; Ma G.-C.; Chang S.-P.; Wu H.-H.; Chen C.-P.; Chang T.-M.; Lin W.-H.; Wu S.-H.; Lee M.-H.; WUH-LIANG HWU ; Chen M. | Taiwanese Journal of Obstetrics and Gynecology | 12 | 12 | |
214 | 2010 | Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic Review | WUH-LIANG HWU ; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao | 台灣醫學 | 0 | ||
215 | 2010 | Newborn Screening | WUH-LIANG HWU ; Y. H. Chien; N. C. Lee | 台灣醫學 | 0 | ||
216 | 2010 | Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry | Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU ; Lai C.-C.; Tsai F.-J. | Analytical Chemistry | 27 | 26 | |
217 | 2010 | Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan | Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE ; WUH-LIANG HWU ; Lin J.-L.; Hung P.-Y.; Niu D.-M. | Journal of the Chinese Medical Association | 18 | 12 | |
218 | 2010 | How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? | Auray-Blais C.; Ntwari A.; Clarke J.T.R.; Warnock D.G.; Oliveira J.P.; Young S.P.; Millington D.S.; Bichet D.G.; Sirrs S.; West M.L.; Casey R.; WUH-LIANG HWU ; Keutzer J.M.; Zhang X.K.; Gagnon R. | Clinica Chimica Acta | 93 | 86 | |
219 | 2010 | Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome | Chen-Chi Wu ; Lu Y.-C.; PEI-JER CHEN ; Yeh P.-L.; Su Y.-N.; WUH-LIANG HWU ; Hsu C.-J. | Audiology and Neurotology | 62 | 56 | |
220 | 2010 | Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program | Labrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 92 | 79 | |
221 | 2010 | Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation | Chen P.W.; WUH-LIANG HWU ; MING-CHIH HO ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YEN-HSUAN NI ; PO-HUANG LEE | Pediatric Transplantation | 33 | 32 | |
222 | 2010 | Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening | NI-CHUNG LEE ; Tang N.L.-S.; YIN-HSIU CHIEN ; CHUN-AN CHEN ; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 84 | 64 | |
223 | 2010 | FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome | Lin W.-D.; Chou I.-C.; NI-CHUNG LEE ; Wang C.-H.; WUH-LIANG HWU ; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J. | Clinical Chemistry and Laboratory Medicine | 6 | 4 | |
224 | 2010 | Ethical Issues in Genetic Testing and the Ethical Guidelines for Genetic Counselling | DANIEL FU-CHANG TSAI ; Yang S.-J.; Chang C.-N.; WUH-LIANG HWU ; Chih-Chao Yang | Formosan Journal of Medicine | 0 | 0 | |
225 | 2010 | Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 2 | 2 | |
226 | 2010 | CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency | Chang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 17 | 15 | |
227 | 2010 | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. | Clinica Chimica Acta | 47 | 41 | |
228 | 2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
229 | 2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 130 | 111 | |
230 | 2010 | Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy | Raben N.; Ralston E.; YIN-HSIU CHIEN ; Baum R.; Schreiner C.; WUH-LIANG HWU ; Zaal K.J.M.; Plotz P.H. | Molecular Genetics and Metabolism | 62 | 57 | |
231 | 2010 | A validated disease severity scoring system for adults with type 1 Gaucher disease | Weinreb N.J.; Cappellini M.D.; Cox T.M.; Giannini E.H.; Grabowski G.A.; WUH-LIANG HWU ; Mankin H.; Martins A.M.; Sawyer C.; Vom Dahl S.; Yeh M.S.; Zimran A. | Genetics in Medicine | 54 | 51 | |
232 | 2010 | Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 19 | 15 | |
233 | 2010 | Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia | Fern?ndez-Irigoyen J.; Santamar?a E.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J. | Molecular Genetics and Metabolism | 27 | 27 | |
234 | 2010 | Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints | NI-CHUNG LEE ; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 16 | 15 | |
235 | 2010 | Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency | Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU ; WANG-TSO LEE ; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. | Neurology | 189 | 149 | |
236 | 2009 | Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. | YIN-HSIU CHIEN ; WUH-LIANG HWU | Human genetics | 3 | 0 | |
237 | 2009 | A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome | Lai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU ; Lu C.-S. | European Journal of Neurology | 33 | 24 | |
238 | 2009 | Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies | Kraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hegele R.A.; Mudd S.H. | Molecular Genetics and Metabolism | 52 | 40 | |
239 | 2009 | Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy | LI-KAI TSAI ; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU ; Li H. | Journal of Pediatrics | 7 | 6 | |
240 | 2009 | Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease | Chen L.-R.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; MING-TAI LIN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Journal of Pediatrics | 54 | 42 | |
241 | 2009 | Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation | NI-CHUNG LEE ; Dimmock D.; WUH-LIANG HWU ; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C. | Archives of Disease in Childhood | 29 | 18 | |
242 | 2009 | Schizencephaly in LEOPARD Syndrome | Liang J.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Yeh S.-J.; STEVEN SHINN-FORNG PENG | Pediatric Neurology | 4 | 4 | |
243 | 2009 | Eye anomalies and neurological manifestations in patients with PAX6 mutations. | YIN-HSIU CHIEN ; HSIANG-PO HUANG ; WUH-LIANG HWU ; Chien Y.H.; Chang T.C.; NI-CHUNG LEE | Molecular vision | 26 | 19 | |
244 | 2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. | Human Mutation | 287 | 257 | |
245 | 2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
246 | 2009 | Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia | NI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 18 | 16 | |
247 | 2009 | Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome | Chiang P.-W.; NI-CHUNG LEE ; Chien N.; WUH-LIANG HWU ; Spector E.; Tsai A.C.-H. | American Journal of Medical Genetics, Part A | 32 | 30 | |
248 | 2009 | Glycogen Storage Disease Type Ib: The First Case in Taiwan | Hsiao H.-J.; HSIU-HAO CHANG ; WUH-LIANG HWU ; Lam C.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Pediatrics and Neonatology | 4 | 3 | |
249 | 2009 | Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report | Lin L.-C.; WUH-LIANG HWU ; Yang R.-C. | Pediatrics International | 0 | 0 | |
250 | 2009 | Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment | CHEN-CHI WU ; Lu Y.-C.; PEI-JER CHEN ; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J. | Laryngoscope | 15 | 15 | |
251 | 2009 | Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti | NI-CHUNG LEE ; Huang C.H.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chang Y.Y.; Chen C.H.; TSANG-MING KO | Clinical Genetics | 7 | 6 | |
252 | 2009 | Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 | Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU ; Lin J.-L. | American Journal of Medical Genetics, Part A | 155 | 139 | |
253 | 2009 | Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study | Wraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU ; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F. | Molecular Genetics and Metabolism | 83 | 73 | |
254 | 2009 | Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study | Pineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU ; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C. | Molecular Genetics and Metabolism | 155 | 137 | |
255 | 2009 | Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding | NI-CHUNG LEE ; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU ; Ming C. | Prenatal Diagnosis | 5 | 4 | |
256 | 2009 | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males | Chen S.-T.; HUEY-LING CHEN ; YEN-HSUAN NI ; YIN-HSIU CHIEN ; YUNG-MING JENG ; MEI-HWEI CHANG ; WUH-LIANG HWU | Pediatrics and Neonatology | 5 | 4 | |
257 | 2008 | Web Services based newborn screening system with Support Vector Machines | Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; YIN-HSIU CHIEN ; Wang Z.; Chen P.-H.; Chang H.-Y.; FEI-PEI LAI ; WUH-LIANG HWU | 5th International Conference on Information Technology and Applications, ICITA 2008 | 1 | ||
258 | 2008 | Gene symbol: GCDH. Disease: Glutaricacidaemia I. | Lin W.D.; WUH-LIANG HWU ; Wang C.H.; Chen C.P.; Tsai F.J. | Human genetics | 1 | 0 | |
259 | 2008 | Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy | Wang S.-B.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; PI-CHUAN FAN ; WANG-TSO LEE | Pediatrics and Neonatology | 49 | 0 | |
260 | 2008 | Reflection on the Practice and Ethics of Genetic Testing and Counseling in Taiwan | Fu-Chang Tsai; WUH-LIANG HWU ; Chin-Ning Chang; Chih-Chao Yang | 醫學教育 | 0 | ||
261 | 2008 | Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein | Chiou Y.-W.; WUH-LIANG HWU ; Lee Y.-M. | Biochimica et Biophysica Acta - Molecular Basis of Disease | 2 | 2 | |
262 | 2008 | Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review | TING-YU YEN ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; MING-TAI LIN ; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE | European Journal of Pediatrics | 49 | 39 | |
263 | 2008 | Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU | Southeast Asian Journal of Tropical Medicine and Public Health | 8 | 0 | |
264 | 2008 | Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients | Lin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J. | Clinica Chimica Acta | 24 | 21 | |
265 | 2008 | Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program | YIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; CHUN-AN CHEN ; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 207 | 178 | |
266 | 2008 | Early detection of glutaric aciduria type I by newborn screening in Taiwan | Hsieh C.-T.; WUH-LIANG HWU ; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN | Journal of the Formosan Medical Association | 24 | 16 | |
267 | 2008 | Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence | Ralston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N. | Journal of Structural Biology | 47 | 46 | |
268 | 2008 | A promoter sequence variant of ZNF750 is linked with familial psoriasis | Yang C.-F.; WUH-LIANG HWU ; Yang L.-C.; Chung W.-H.; YIN-HSIU CHIEN ; Hung C.-F.; Chen H.-C.; Tsai P.-J.; Fann C.S.J.; Liao F.; Chen Y.-T. | Journal of Investigative Dermatology | 30 | 26 | |
269 | 2008 | Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II | Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU ; Yang C.-C.; Tsai C.-H.; Tsai F.-J. | Journal of Neurology | 50 | 46 | |
270 | 2008 | Gene symbol: GLA. Disease: Fabry disease. | Lin W.D.; WUH-LIANG HWU ; Liu S.C.; Tsai F.J. | Human genetics | 1 | 0 | |
271 | 2008 | Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter | SHU-CHIEN HUANG ; EN-TING WU ; SHUENN-NAN CHIU ; WUH-LIANG HWU ; MEI-HWAN WU ; SHOEI-SHEN WANG | Journal of Thoracic and Cardiovascular Surgery | 4 | 4 | |
272 | 2008 | Screening for pompe disease and fabry disease | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Clinical Therapeutics | 1 | 1 | |
273 | 2008 | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | Chen H.-W.; HUEY-LING CHEN ; YEN-HSUAN NI ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG | Journal of Pediatric Gastroenterology and Nutrition | 21 | 10 | |
274 | 2008 | Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease | HUEY-LING CHEN ; Wang R.; Chen H.-L.; WUH-LIANG HWU ; YUNG-MING JENG ; MEI-HWEI CHANG ; Ling V. | Journal of Biomedical Science | 6 | 6 | |
275 | 2008 | Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease | Corzo D.; Byrne B.; WUH-LIANG HWU ; Leslie N.; Mandel H.; Nicolino M. | Clinical Therapeutics | 0 | 0 | |
276 | 2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
277 | 2008 | Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia | NI-CHUNG LEE ; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU | Pediatric Neurology | 22 | 20 | |
278 | 2008 | Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring | Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D.; Dahl, S. vom; Goldblatt, J.; Grabowski, G. A.; Hollak, C. E. M.; WUH-LIANG HWU ; Maas, M.; Martins, A. M.; Mistry, P. K.; Pastores, G. M.; Tylki-Szymanska, A.; Yee, J.; Weinreb N. | Journal of Inherited Metabolic Disease | 112 | 93 | |
279 | 2008 | [Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. | Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU ; Zhang C.H.; Kobayashi K. | Zhonghua er ke za zhi. Chinese journal of pediatrics | 10 | 0 | |
280 | 2008 | Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders | Bodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU ; M?hl A. | Clinical Therapeutics | 0 | 0 | |
281 | 2008 | Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease | Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU ; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Paediatric Anaesthesia | 5 | 6 | |
282 | 2008 | Fibrous dysplasia in a child with mitochondrial A8344G mutation | Chen S.-T.; PI-CHUAN FAN ; WUH-LIANG HWU ; MEI-HWAN WU | Journal of Child Neurology | 7 | 6 | |
283 | 2007 | Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease | Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU ; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN ; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E. | Neurology | 661 | 583 | |
284 | 2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 | |
285 | 2007 | Valproic acid treatment in six patients with spinal muscular atrophy [5] | LI-KAI TSAI ; Yang C.-C.; WUH-LIANG HWU ; Li H. | European Journal of Neurology | 43 | 40 | |
286 | 2007 | The genetics of atopic dermatitis | YIN-HSIU CHIEN ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Clinical Reviews in Allergy and Immunology | 29 | 25 | |
287 | 2007 | The design and implementation of a next generation information system for newborn screening | Tu, C.-M.; Tang, M.-Y.; Chang, H.-Y.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; FEI-PEI LAI | HEALTHCOM 2007: Ubiquitous Health in Aging Societies - 2007 9th International Conference on e-Health Networking, Application and Services | 6 | 0 | |
288 | 2007 | Human gene mutations. Gene symbol: GLA. Disease: Fabry disease. | Lin W.D.; WUH-LIANG HWU ; Liu S.C.; Chen C.P.; Tsai F.J. | Human genetics | 3 | 0 | |
289 | 2007 | Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendations | Kemper A.R.; WUH-LIANG HWU ; Lloyd-Puryear M.; Kishnani P.S. | Pediatrics | 52 | 42 | |
290 | 2007 | A review of treatment of pompe disease in infants | YIN-HSIU CHIEN ; WUH-LIANG HWU | Biologics: Targets and Therapy | 13 | ||
291 | 2007 | Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification | Huang C.-H.; Chang Y.-Y.; Chen C.-H.; Kuo Y.-S.; WUH-LIANG HWU ; Gerdes T.; TSANG-MING KO | Genetics in Medicine | 60 | 51 | |
292 | 2007 | Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort | CHING-CHIA WANG ; WUH-LIANG HWU ; EN-TING WU ; FRANK LEIGH LU ; JOU-KOU WANG ; MEI-HWAN WU | Acta Paediatrica, International Journal of Paediatrics | 25 | 20 | |
293 | 2007 | Slipped capital femoral epiphysis as a complication of growth hormone therapy. | Wang S.-Y.; YI-CHING TUNG ; WEN-YU TSAI ; YIN-HSIU CHIEN ; Lee J.-S.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 10 | 7 | |
294 | 2007 | Russell-Silver Syndrome與印記基因關連性探討 | 李美慧; WUH-LIANG HWU ; 呂旭峰; 陳明 | 當代醫學 | 0 | ||
295 | 2007 | Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome) | Chen C.-P.; Lin S.-P.; Tzen C.-Y.; WUH-LIANG HWU ; Chern S.-R.; Chuang C.-K.; Chiang S.-S.; Wang W. | Genetic Counseling | 8 | 6 | |
296 | 2007 | Identification and management of cardiac perforation from a double lumen catheter in an infant [6] | CHING-CHIA WANG ; Chen Y.-W.; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ko W.-J.; SHU-CHIEN HUANG | Paediatric Anaesthesia | 3 | 2 | |
297 | 2007 | Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism | CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chiang S.-C.; CHUN-HWEI TAI ; RUEY-MEEI WU | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 8 | 7 | |
298 | 2007 | Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE | Journal of inherited metabolic disease | 14 | 13 | |
299 | 2006 | Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants | Yeh J.-N.; YUNG-MING JENG ; HUEY-LING CHEN ; YEN-HSUAN NI ; WUH-LIANG HWU ; MEI-HWEI CHANG | Journal of Pediatrics | 41 | 28 | |
300 | 2006 | Establishing a standardized therapeutic testing protocol for spinal muscular atrophy | LI-KAI TSAI ; Tsai M.-S.; Lin T.-B.; WUH-LIANG HWU ; Li H. | Neurobiology of Disease | 52 | 51 | |
301 | 2006 | Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; HUEY-LING CHEN ; Chiu P.-C.; YEN-HSUAN NI ; MEI-HWEI CHANG ; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 28 | 15 | |
302 | 2006 | Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma | Tsai C.-W.; Chih-Chao Yang ; HUEY-LING CHEN ; WUH-LIANG HWU ; MU-ZON WU ; KAO-LANG LIU ; MING-SHIANG WU | Journal of the Formosan Medical Association | 30 | 27 | |
303 | 2006 | A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Kishnani P.S.; WUH-LIANG HWU ; Mandel H.; Nicolino M.; Yong F.; Corzo D. | Journal of Pediatrics | 496 | 428 | |
304 | 2006 | 遺傳因素造成胎兒在子宮內生長遲緩之要因與結果分析 | 呂旭峰; WUH-LIANG HWU ; 李美慧 | 當代醫學 | 0 | ||
305 | 2006 | Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations | Wan L.; Hsu C.-M.; Tsai C.-H.; Lee C.-C.; WUH-LIANG HWU ; Tsai F.-J. | Blood Cells, Molecules, and Diseases | 46 | 41 | |
306 | 2006 | Tandem mass neonatal screening in Taiwan - Report from one center | HSIANG-PO HUANG ; Chu K.-L.; YIN-HSIU CHIEN ; Wei M.-L.; Wu S.-T.; Wang S.-F.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 33 | 25 | |
307 | 2006 | Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype | Chen M.; WUH-LIANG HWU ; Kuo S.-J.; Chen C.-P.; Yin P.-L.; Chang S.-P.; Lee D.-J.; Chen T.-H.; Wang B.-T.; Lin C.-C. | Ultrasound in Obstetrics and Gynecology | 16 | 14 | |
308 | 2006 | Brain development in infantile-onset pompe disease treated by enzyme replacement therapy | YIN-HSIU CHIEN ; NI-CHUNG LEE ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU | Pediatric Research | 73 | 62 | |
309 | 2006 | Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. | MING-JEN LEE ; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU ; FON-JOU HSIEH ; Stephenson D.A.; CHIA-LI YU | Human mutation | 32 | 27 | |
310 | 2005 | Plasma chitotriosidase activity and malaria (multiple letters) | YIN-HSIU CHIEN ; JEN-HAU CHEN ; WUH-LIANG HWU ; Musumeci S. | Clinica Chimica Acta | 15 | 18 | |
311 | 2005 | Spectrum of hypermethioninemia in neonatal screening | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; WUH-LIANG HWU | Early Human Development | 34 | 26 | |
312 | 2005 | Reye's syndrome developing in an infant on treatment of Kawasaki syndrome | Wei C.-M.; HUEY-LING CHEN ; PING-ING LEE ; Chen C.-M.; Ma C.-Y.; WUH-LIANG HWU | Journal of Paediatrics and Child Health | 28 | 17 | |
313 | 2005 | Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C | Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; WUH-LIANG HWU ; MING-JEN LEE | Journal of Neurology, Neurosurgery and Psychiatry | 25 | 22 | |
314 | 2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 56 | 51 | |
315 | 2005 | Mapping of psoriasis to 17q terminus | WUH-LIANG HWU ; Yang C.-F.; Fann C.S.J.; Chen C.-L.; TSEN-FANG TSAI ; Chein Y.-H.; Chiang S.-C.; Chen C.-H.; Hung S.-I.; Wu J.-Y.; Chen Y.-T. | Journal of Medical Genetics | 45 | 39 | |
316 | 2005 | Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism | HSIANG-PO HUANG ; YIN-HSIU CHIEN ; LI-MIN HUANG ; YEN-HSUAN NI ; MEI-HWEI CHANG ; MING-CHIH HO ; PO-HUANG LEE ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 12 | 11 | |
317 | 2005 | Adenoviral interneuronal transportation after retrograde gene transfer in mice | LI-KAI TSAI ; Tsai M.-S.; Shyue S.-K.; WUH-LIANG HWU ; Li H. | Molecular Brain Research | 2 | 2 | |
318 | 2005 | Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up | Wang T.-J.; MUH-SHY CHEN ; Shih Y.-F.; WUH-LIANG HWU ; Lai M.-Y. | American Journal of Ophthalmology | 13 | 8 | |
319 | 2005 | KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 | Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU | Molecular Vision | 21 | 17 | |
320 | 2005 | Parkin mutations and early-onset parkinsonism in a Taiwanese cohort | RUEY-MEEI WU ; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chen J.; Gwinn-Hardy K.; Farrer M. | Archives of Neurology | 66 | 58 | |
321 | 2005 | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation | CHUN-AN CHEN ; Tang N.L.S.; YIN-HSIU CHIEN ; Zhang W.-M.; JOU-KOU WANG ; WUH-LIANG HWU | BMC Medical Genetics | 3 | 3 | |
322 | 2004 | A step-wise diagnosis of fragile X syndrome in Taiwan | Huang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
323 | 2004 | Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review | Chu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU | Tzu Chi Medical Journal | 1 | ||
324 | 2004 | Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan | YIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU ; WANG-TSO LEE ; WUH-LIANG HWU | Journal of Child Neurology | 37 | 30 | |
325 | 2004 | Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia | WUH-LIANG HWU ; Lu M.-Y.; Hwa K.-Y.; Fan S.-W.; Lee Y.-M. | Annals of Neurology | 12 | 11 | |
326 | 2004 | DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients | Wang C.K.; MING-JANG CHIU et al. ; WUH-LIANG HWU ; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; RUEY-MEEI WU ; TA-FU CHEN ; Wang H.C.; Chao M.C.; Chiu M.J.; Lu C.J.; Lee-Chen G.J. | European Neurology | 17 | 16 | |
327 | 2004 | RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoter | Wu S.-M.; Kuo W.-C.; WUH-LIANG HWU ; Hwa K.-Y.; Mantovani R.; Lee Y.-M. | Molecular Pharmacology | 11 | 12 | |
328 | 2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 0 | 0 | |
329 | 2004 | Trisomy 18 in monozygotic twins with discordant phenotypes | Lee J.-T.; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; WU-SHIUN HSIEH ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 6 | 5 | |
330 | 2004 | Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case | WUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y. | Acta Paediatrica Taiwanica | 3 | 0 | |
331 | 2004 | Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 4 | 0 | |
332 | 2004 | Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. | Chen C.P.; Lin S.P.; Tzen C.Y.; Tsai F.J.; WUH-LIANG HWU ; Wang W. | Prenatal diagnosis | 9 | 0 | |
333 | 2004 | Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children | Liang J.-S.; WANG-TSO LEE ; WUH-LIANG HWU ; STEVEN SHINN-FORNG PENG ; Chu L.-W.; Wang P.-J.; Shen Y.-Z. | Acta Paediatrica Taiwanica | 9 | 0 | |
334 | 2004 | Carbohydrate deficient glycoprotein syndrome type IA | Chu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 3 | 2 | |
335 | 2004 | Distal Arthrogryposis in Two Sisters Born to Different Fathers [4] | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.-C. | American Journal of Medical Genetics | 4 | 4 | |
336 | 2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 1 | 0 | |
337 | 2004 | Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. | YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU | Human mutation | 33 | 0 | |
338 | 2004 | Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment | STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU | American Journal of Neuroradiology | 26 | 22 | |
339 | 2004 | Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T.; Chang K.-W.; YAO-HSU YANG ; KAI-HSIN LIN ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 7 | 0 | |
340 | 2003 | The Diagnosis and Treatment of Glycogen Storage Disease Type Ia | WUH-LIANG HWU | Acta Paediatrica Taiwanica | 0 | ||
341 | 2003 | Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese | Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lin S.-J.; FRANK LEIGH LU ; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 2 | 1 | |
342 | 2003 | Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both? | WUH-LIANG HWU ; Yu C.-L. | Acta Paediatrica Taiwanica | 0 | 0 | |
343 | 2003 | Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease | Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU ; Chiang S.-C.; Lien Y.-H.H. | Clinical Genetics | 19 | 16 | |
344 | 2003 | Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells | WUH-LIANG HWU ; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M. | Biochemical and Biophysical Research Communications | 13 | 11 | |
345 | 2003 | Living-related liver transplantation for methylmalonic acidemia: Report of one case | Hsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; FRANK LEIGH LU ; HUEY-LING CHEN ; Ho M.-J.; PO-HUANG LEE ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 24 | 0 | |
346 | 2003 | Neonatal screening and monitoring system in Taiwan. | WUH-LIANG HWU ; Huang A.C.; Chen J.S.; Hsiao K.J.; WEN-YU TSAI | The Southeast Asian journal of tropical medicine and public health | 12 | 0 | |
347 | 2003 | Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings | YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; Chou C.-C.; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 0 | 0 | |
348 | 2003 | Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Liang J.-S.; WANG-TSO LEE ; Wang P.-J.; WEN-YU TSAI | Journal of the Formosan Medical Association | 7 | 4 | |
349 | 2003 | Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case | Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
350 | 2003 | Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency | WUH-LIANG HWU ; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C. | Human Genetics | 3 | 0 | |
351 | 2003 | Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations | Kobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU ; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T. | Molecular Genetics and Metabolism | 68 | 66 | |
352 | 2002 | Gene Analysis in Huntington's Disease | WUH-LIANG HWU ; Shu-Chuan Chiang | 台灣醫學 | 0 | ||
353 | 2002 | Educational Course of the Wei Foundation for Pediatric Research Brief Case Reports-Neonatal Progeroid Syndrome | WUH-LIANG HWU | ACTA PAEDIATRICA TAIWANICA | |||
354 | 2002 | DiGeorge sequence with hypogammaglobulinemia: A case report | YIN-HSIU CHIEN ; YAO-HSU YANG ; Chu S.-Y.; WUH-LIANG HWU ; Kuo P.-L.; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 6 | 0 | |
355 | 2002 | Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome | Chan P.-C.; HSIEN-CHING CHIU ; WUH-LIANG HWU | Clinical Dysmorphology | 5 | 3 | |
356 | 2002 | A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. | Tang N.L.; WUH-LIANG HWU ; Chan R.T.; Law L.K.; Fung L.M.; Zhang W.M. | Human mutation | 48 | 40 | |
357 | 2002 | Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations | RUEY-MEEI WU ; Shan D.-E.; Sun C.-M.; Liu R.-S.; WUH-LIANG HWU ; CHUN-HWEI TAI ; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S. | Movement Disorders | 33 | 27 | |
358 | 2002 | Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant | YIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 15 | 14 | |
359 | 2002 | Cranial MR spectroscopy of tetrahydrobiopterin deficiency | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Wang T.-R.; WUH-LIANG HWU | American Journal of Neuroradiology | 11 | 9 | |
360 | 2002 | Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study | Chu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 18 | 14 | |
361 | 2002 | Cockayne syndrome in a family | YIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 3 | 0 | |
362 | 2002 | An infant with heart murmur and dysmorphic face | YIN-HSIU CHIEN ; Kuo P.-L.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 1 | 0 | |
363 | 2002 | Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease | Hsu C.-C.; YIN-HSIU CHIEN ; Lai M.-Y.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 7 | 6 | |
364 | 2002 | Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan | Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
365 | 2001 | MRI in a case of adult-onset citrullinemia | YA-FANG CHEN ; Huang Y.-C.; HON-MAN LIU ; WUH-LIANG HWU | Neuroradiology | 20 | 20 | |
366 | 2001 | Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan | Wong L.-J.C.; WUH-LIANG HWU ; Dai P.; Chen T.-J. | Molecular Genetics and Metabolism | 15 | 12 | |
367 | 2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 20 | |
368 | 2001 | Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency | Binzak B.A.; Wevers R.A.; Moolenaar S.H.; Lee Y.-M.; WUH-LIANG HWU ; Poggi-Bach J.; Engelke U.F.H.; Hoard H.M.; Vockley J.G.; Vockley J. | American Journal of Human Genetics | 55 | 45 | |
369 | 2001 | Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies | Wang P.-J.; WUH-LIANG HWU ; Shen Y.-Z. | Journal of Clinical Neurophysiology | 36 | 26 | |
370 | 2001 | A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene. | WUH-LIANG HWU ; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H. | Journal of medical genetics | 22 | 0 | |
371 | 2001 | Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1] | Wu C.-H.; WUH-LIANG HWU ; JOU-KOU WANG ; Young C.; STEVEN SHINN-FORNG PENG ; MENG-FAI KUO | American Journal of Medical Genetics | 8 | 7 | |
372 | 2000 | 一般兒科訓練 | WUH-LIANG HWU ; MEI-HWAN WU | 醫學教育 | 0 | ||
373 | 2000 | 龐培(Pompe)氏症之酵素補充治療 | WUH-LIANG HWU | 當代醫學 | 0 | ||
374 | 2000 | Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia | Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG ; Wang T.-R.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Human Genetics | 12 | 9 | |
375 | 2000 | Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S | Teng Y.N.; Wang T.R.; WUH-LIANG HWU ; Lin S.P.; Lee-Chen G.J. | Clinical Genetics | 21 | 18 | |
376 | 2000 | Congenital contractural arachnodactyly (Beals syndrome) | Su P.-H.; Hou J.-W.; WUH-LIANG HWU ; MEI-HWAN WU ; JOU-KOU WANG ; Wang T.-R. | Acta Paediatrica Taiwanica | 13 | 0 | |
377 | 2000 | Dopa-responsive dystonia is induced by a dominant-negative mechanism | WUH-LIANG HWU ; Chiou Y.-W.; Lai S.-Y.; Lee Y.-M. | Annals of Neurology | 44 | ||
378 | 2000 | Carnitine transport defect presenting with hyperammonemia: Report of one case | WUH-LIANG HWU ; Chiang S.-C.; MEI-HWEI CHANG ; Wang T.-R. | Acta Paediatrica Taiwanica | 8 | 0 | |
379 | 2000 | 臺灣一位Hurler型多醣儲積症(MPS IH)患者的IDUA基因突變分析及記述 | Yen-Ni Teng; Guey-Jen Lee-Chen; Tso-Ren Wang; WUH-LIANG HWU | 師大學報:數理與科技類 | 0 | ||
380 | 2000 | Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation | WUH-LIANG HWU ; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; WEN-YU TSAI | Journal of the Formosan Medical Association | 9 | 7 | |
381 | 2000 | Metabolic disorders mimicking Reye's syndrome | Chang P.-F.; Huang S.-F.; WUH-LIANG HWU ; Hou J.-W.; YEN-HSUAN NI ; MEI-HWEI CHANG | Journal of the Formosan Medical Association | 11 | 7 | |
382 | 2000 | Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case | Yang T.-Y.; HUEY-LING CHEN ; YEN-HSUAN NI ; WUH-LIANG HWU ; MEI-HWEI CHANG | Acta Paediatrica Taiwanica | 6 | 0 | |
383 | 1999 | Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.- M.; Hayashi K. | Human Mutation | 0 | ||
384 | 1999 | Molecular genetic study of Pompe disease in Chinese patients in Taiwan | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.-M. | Human Mutation | 64 | ||
385 | 1999 | Allele distribution at the FMR1 locus in the general Chinese population | Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU | Clinical Genetics | 19 | 14 | |
386 | 1999 | Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations | WUH-LIANG HWU ; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG ; Wen W.-H.; Wang T.-R. | Journal of Inherited Metabolic Disease | 8 | 5 | |
387 | 1999 | Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation | Hsu Y.-S.; WUH-LIANG HWU ; Huang S.-F.; MENG-YAO LU ; Chen R.-L.; DONG-TSAMN LIN ; STEVEN SHINN-FORNG PENG ; KAI-HSIN LIN | Bone Marrow Transplantation | 56 | 39 | |
388 | 1999 | Neonatal type of nonketotic hyperglycinemia | FRANK LEIGH LU ; Wang P.-J.; WUH-LIANG HWU ; Tsou Yau K.-I.; Wang T.-R. | Pediatric Neurology | 38 | 27 | |
389 | 1999 | Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation | WUH-LIANG HWU ; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M. | Human Genetics | 35 | 28 | |
390 | 1999 | 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case | Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S. | Acta Paediatrica Taiwanica | 3 | 0 | |
391 | 1998 | Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease | STEVEN SHINN-FORNG PENG ; Li Y.-W.; WUH-LIANG HWU | Tzu Chi Medical Journal | 0 | ||
392 | 1998 | Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population | Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU ; Day K.-R.; Wang C.-K. | Journal of the Formosan Medical Association | 2 | 2 | |
393 | 1998 | Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan | Su P.-H.; WUH-LIANG HWU ; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R. | Journal of the Formosan Medical Association | 1 | 1 | |
394 | 1998 | Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene | Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU ; Lam C.-W. | Human Genetics | 9 | 11 | |
395 | 1998 | The controversy regarding diagnostic criteria for early myoclonic encephalopathy | Wang P.-J.; WANG-TSO LEE ; WUH-LIANG HWU ; Young C.; Yau K.-I.T.; Shen Y.-Z. | Brain and Development | 23 | 12 | |
396 | 1998 | Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome | Tsai F.-J.; WUH-LIANG HWU ; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H. | Human Mutation | 2 | 0 | |
397 | 1997 | Ornithine transcarbamylase deficiency | Yeh S.-J.; WUH-LIANG HWU ; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R. | Journal of the Formosan Medical Association | 2 | 3 | |
398 | 1997 | FMR1 enhancer is regulated by cAMP through a cAMP-responsive element | WUH-LIANG HWU | DNA and Cell Biology | 30 | 28 | |
399 | 1997 | Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease | Wang P.-J.; WUH-LIANG HWU ; WANG-TSO LEE ; Wang T.-R.; Shen Y.-Z. | Pediatric Neurology | 32 | 27 | |
400 | 1996 | Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. | Tsai S.Y.; YUNG-MING JENG ; WUH-LIANG HWU ; YEN-HSUAN NI ; MEI-HWEI CHANG ; Wang T.R. | Journal of the Formosan Medical Association = Taiwan yi zhi | 8 | 3 | |
401 | 1996 | Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. | Tsai L.P.; Sue W.C.; WUH-LIANG HWU ; KAI-HSIN LIN ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 7 | 0 | |
402 | 1996 | Camptomelic dysplasia: report of one case | PO-NIEN TSAO ; Teng, R. J.; WUH-LIANG HWU ; Tsou Yau, K. I.; Wang, T. R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | |||
403 | 1996 | Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region | Tsai, C. H.; Tsai, F. J.; WUH-LIANG HWU ; Wang, T. R.; Shu, S. G.; Liu, S. C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | |||
404 | 1996 | Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia | Wang T.-R.; Wang W.-P.; WUH-LIANG HWU ; Lee M.-L. | Human Mutation | 6 | ||
405 | 1996 | Diagnosis of mucopolysaccharidosis type IIIB | WUH-LIANG HWU | Acta Paediatrica Sinica | 1 | 0 | |
406 | 1996 | Arylsulfatase A pseudodeficiency in Chinese | WUH-LIANG HWU ; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R. | Human Genetics | 6 | 4 | |
407 | 1995 | Molecular diagnosis of Gaucher disease type II. | Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Liu S.C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
408 | 1995 | Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096)) | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chang S.-M.; Wang T.-R. | Human Molecular Genetics | 1 | ||
409 | 1995 | Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chuang S.-M.; Wang T.-R. | Human Molecular Genetics | 26 | 29 | |
410 | 1995 | MPS I: Mutation and Polymorphism | Guey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG HWU ; Tso-Ren Wang | 師大生物學報 | 0 | ||
411 | 1995 | 魏火曜兒科研究基金會教育課程-病例簡報-骨髓移植在Maroteux-Lamy症候群的應用 | 林文騰; 周獻堂; WUH-LIANG HWU ; 林凱信; 王作仁 | Acta Paediatrica Sinica | 0 | ||
412 | 1995 | Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene. | Tsai F.J.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Shu S.G.; Liu S.C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
413 | 1994 | Diagnosis of I-cell disease. | WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
414 | 1994 | Cytogenetic study of mentally retarded children in Taipei | Wang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU ; Wang T.-R.; Wuu K.-D. | Journal of Biomedical Science | 1 | 0 | |
415 | 1994 | Fucosidosis in a Chinese girl | WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R. | Journal of Inherited Metabolic Disease | 2 | 2 | |
416 | 1994 | Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan | Wang P.-J.; Ko Y.-M.; Young C.; WUH-LIANG HWU ; Shen Y.-Z. | Brain and Development | 8 | 9 | |
417 | 1993 | Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis. | Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Chou S.P.; Liu C.H. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 3 | 0 | |
418 | 1993 | Y-specific polymerase chain reaction for the interpretation of a chromosome marker. | Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Tsai H.M.; Liu C.H. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
419 | 1993 | In Vitro DNA Methylation Inhibits FMR-1 Promoter | WUH-LIANG HWU ; Lee Y.M.; Lee S.C.; Wang T.R. | Biochemical and Biophysical Research Communications | 34 | 36 | |
420 | 1993 | Cardiovascular disorders in Turner's syndrome and its correlation to karyotype. | Hou J.W.; WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang T.R.; HUNG-CHI LUE | Journal of the Formosan Medical Association = Taiwan yi zhi | 22 | 0 | |
421 | 1992 | DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5. | WUH-LIANG HWU ; Chen R.L.; KAI-HSIN LIN ; Wang T.R. | Journal of the Formosan Medical Association = Taiwan yi zhi | 0 | 0 | |
422 | 1992 | Measurement of urinary orotic acid by gas chromatography-mass spectrometry. | WUH-LIANG HWU ; Chou S.P.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 3 | 0 | |
423 | 1992 | Transfusion‐acquired cytomegalovirus infection in children in a hyperendemic area | PING-ING LEE ; MEI-HWEI CHANG ; WUH-LIANG HWU ; CHUAN-LIANG KAO ; CHIN-YUN LEE | Journal of Medical Virology | 14 | 10 | |
424 | 1991 | Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. | WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
425 | 1991 | Niemann-Pick disease type B with ocular involvement: report of a case. | Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
426 | 1991 | A clinical observation of achondroplasia. | WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
427 | 1991 | Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case. | WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang P.J.; Wang T.R. | Acta Paediatrica Sinica | 3 | 0 | |
428 | 1991 | Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA | Kuo F.C.; WUH-LIANG HWU ; Valle D.; Darnell Jr. J.E. | Proceedings of the National Academy of Sciences of the United States of America | 64 | 62 | |
429 | 1991 | Crisis in Gaucher disease simulating osteomyelitis: report of one case. | Lai Y.C.; WUH-LIANG HWU ; Wang T.R.; Hsieh K.H.; CHIN-YUN LEE ; Li Y.W. | Acta Paediatrica Sinica | |||
430 | 1989 | Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. | WUH-LIANG HWU ; Wang P.J.; Shen Y.Z. | Acta Paediatrica Sinica | 2 | 0 | |
431 | 1989 | A clinical study of intravenous immunoglobulin therapy for childhood idiopathic thrombocytopenic purpura | DONG-TSAMN LIN ; WUH-LIANG HWU ; KAI-HSIN LIN ; Lin K.-S. | Journal of the Formosan Medical Association | 1 | 0 | |
432 | 1989 | Alkaptonuria in a Chinese baby | Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 1 | 1 | |
433 | 1988 | Idiopathic inflammatory bowel disease in children and adolescents. | WUH-LIANG HWU ; MEI-HWEI CHANG ; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y. | Journal of the Formosan Medical Association | 2 | 0 |