第 1 到 215 筆結果,共 215 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 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN | Movement disorders : official journal of the Movement Disorder Society | 2 | 0 | |
5 | 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 | |||
6 | 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 | |
7 | 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 | |
8 | 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 | |
9 | 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 | |
10 | 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 | |
11 | 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 | |
12 | 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 | |
13 | 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 | ||
14 | 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 | 5 | 3 | |
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 | Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia | Chen, Pin-Shiuan; MENG-CHEN WU ; CHUN-HWEI TAI ; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Lin, Han-I; NI-CHUNG LEE ; CHIN-HSIEN LIN | Parkinsonism & related disorders | 1 | 1 | |
17 | 2023 | Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation | Wu, Jeng-Hung; Wang, Yu-Jui; JAU-YU LIAU ; NI-CHUNG LEE ; EN-TING WU | Pediatrics and neonatology | 0 | 0 | |
18 | 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 | |
19 | 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 | |
20 | 2023 | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum | Chung, Chi-Ting; NI-CHUNG LEE ; Fan, Sung-Pin; Hung, Miao-Zi; YEN-HENG LIN ; CHIH-HAO CHEN ; Tun Jao | Epilepsy and Behavior Reports | 2 | 1 | |
21 | 2023 | B-cell Immunodeficiency in a Patient with Pearson Syndrome | Chen, Yu-Chia; SHIANN-TANG JOU ; NI-CHUNG LEE ; BOR-LUEN CHIANG ; HSIN-HUI YU | Journal of clinical immunology | 0 | 0 | |
22 | 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 | |
23 | 2023 | The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case report | Li, Cheng-Hsuan; NI-CHUNG LEE ; Lin, Kun-Ju; Hsiao, Ing-Tsung; Weng, Yi-Hsin; CHIN-HSIEN LIN | NEUROLOGY ASIA | 0 | 0 | |
24 | 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 | |
25 | 2022 | Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course | Chiang, Che-Ming; YUNG-MING JENG ; MING-CHIH HO ; Lai, Ming-Wei; Li, Huei-Ying; PEI-LUNG CHEN ; NI-CHUNG LEE ; JIA-FENG WU ; YU-CHUN CHIU ; Liou, Bang-Yu; YEN-HSUAN NI ; HONG-YUAN HSU ; MEI-HWEI CHANG ; HUEY-LING CHEN | JGH open : an open access journal of gastroenterology and hepatology | 1 | 1 | |
26 | 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 | |
27 | 2022 | The incorporation of next-generation sequencing into pediatric care | NI-CHUNG LEE | Pediatrics and neonatology | 1 | 1 | |
28 | 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 | |
29 | 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 | |
30 | 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 | |
31 | 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 | |
32 | 2022 | Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome | Ou, Tsung-Ying; Tsai, Meng-Che; Kuo, Pao-Lin; NI-CHUNG LEE ; Chou, Yen-Yin | Taiwanese journal of obstetrics & gynecology | 0 | 0 | |
33 | 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 | |
34 | 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 | |
35 | 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 | |
36 | 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 | |
37 | 2022 | A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations | Lin I.-T.; NI-CHUNG LEE ; Fan, Sung-Pin; Huang C.-J.; Cheng P.; Chen J.-H.; CHIN-HSIEN LIN | Parkinsonism and Related Disorders | 2 | 1 | |
38 | 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 | 9 | 7 | |
39 | 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 | |
40 | 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 | |
41 | 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 | |
42 | 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 | |
43 | 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 | |
44 | 2022 | Impact of genetic tests on survivors of paediatric sudden cardiac arrest | SHUENN-NAN CHIU ; JYH-MING JIMMY JUANG ; WEI-CHIEH TSENG ; Chen, Wen-Pin; NI-CHUNG LEE ; MEI-HWAN WU | Archives of Disease in Childhood | 0 | 0 | |
45 | 2021 | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation | Su, Tzu-Hsuan; NI-CHUNG LEE ; Wu, Chao-Szu; STEVEN SHINN-FORNG PENG ; PI-CHUAN FAN | Journal of the Formosan Medical Association = Taiwan yi zhi | 0 | 0 | |
46 | 2021 | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review | Lin, Ting-Wei; YA-CHIAO HU ; YAO-HSU YANG ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; HSIN-HUI YU ; BOR-LUEN CHIANG ; LI-CHIEH WANG | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 3 | 3 | |
47 | 2021 | NAXE gene mutation-related progressive encephalopathy: A case report and literature review | Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; NI-CHUNG LEE ; Hong, Syuan-Yu; Chou, I-Ching; Lin, Chien-Lin; Yang, Pei-Yu | Medicine | 5 | 4 | |
48 | 2021 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity | Li, Jeng-Lin; NI-CHUNG LEE ; Chen, Pin-Shiuan; Lee, Gin Hoong; RUEY-MEEI WU | Movement disorders clinical practice | 3 | 2 | |
49 | 2021 | Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome | Fan, Sung-Pin; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; Chang, Koping; NI-CHUNG LEE ; PEI-HSIN HUANG ; Yang, Chih-Chao | eNeurologicalSci | 1 | 0 | |
50 | 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 | |
51 | 2021 | Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development | Wu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE | Journal of assisted reproduction and genetics | 11 | 10 | |
52 | 2021 | A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan | Kuo, Yih-Chih; HSUEH-WEN HSUEH ; Hsueh, Sung-Ju; NI-CHUNG LEE ; MING-JU HSIEH ; CHI-CHAO CHAO ; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; Yang, Chih-Chao | Neuromuscular disorders : NMD | 3 | 3 | |
53 | 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 | |
54 | 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 | |
55 | 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 | |
56 | 2021 | Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28 | Chen P.-S.; NI-CHUNG LEE ; Fan S.-P.; CHUN-HWEI TAI ; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; JYH-HORNG CHEN | Movement Disorders | 0 | 0 | |
57 | 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 | |
58 | 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 | |
59 | 2021 | Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflex | Yan Y.J.; Tsai Y.C.; MEI-LAN KO ; NI-CHUNG LEE ; Chiou J.C.; Ou-Yang M. | Review of Scientific Instruments | 2 | 2 | |
60 | 2021 | PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports | Chang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE ; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-Yow | Frontiers in pediatrics | 5 | 5 | |
61 | 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 | |
62 | 2020 | Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy | CHIN-HSIEN LIN ; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; SHIOU-RU TZENG ; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; RUOH-FANG YEN ; NI-CHUNG LEE ; Lo, Wen-Chun; Hung, Yu-Chien; CHIH-CHIANG CHAN ; Ke, Yi-Ci; CHI-CHAO CHAO ; SUNG-TSANG HSIEH ; Farrer, Matthew; RUEY-MEEI WU | Brain : a journal of neurology | 29 | 32 | |
63 | 2020 | Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report | Chang, Kai-Chieh; Kuo, Yih-Chih; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; Yang, Chih-Chao; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | eNeurologicalSci | 0 | 0 | |
64 | 2020 | UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis | Liao, Chun-Hua; NI-CHUNG LEE ; SHIANN-TANG JOU ; BOR-LUEN CHIANG ; HSIN-HUI YU | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 1 | 1 | |
65 | 2020 | A case of GNE myopathy mimicking hereditary motor neuropathy | Huang Y.-N.; HUNG-JUI CHUANG ; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; NI-CHUNG LEE ; CHI-CHAO CHAO ; PEI-HSIN HUANG ; Lee Y.-C.; Lin K.-P.; Yang C.-C.; SUNG-TSANG HSIEH | European journal of neurology | 4 | 4 | |
66 | 2020 | Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 | PAUL-CHEN HSIEH ; Chen-Chi Wu ; NI-CHUNG LEE ; JUNG-HSIEN HSIEH ; YI-HUA LIAO | Dermatologica Sinica | 0 | 0 | |
67 | 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 | |
68 | 2020 | Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification | Fan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN | Movement Disorders | 9 | 9 | |
69 | 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 | |
70 | 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 | |
71 | 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 | |
72 | 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 | |
73 | 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 | |
74 | 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 | |
75 | 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 | |
76 | 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 | |
77 | 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 | |
78 | 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 | |
79 | 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 | |
80 | 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 | |
81 | 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 | |
82 | 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 | |
83 | 2020 | Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene | Fan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN | Journal of the Formosan Medical Association | 12 | 7 | |
84 | 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 | |
85 | 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 | |
86 | 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 | |
87 | 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 | |
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 | 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 | |
92 | 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 | |
93 | 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 | |
94 | 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 | |
95 | 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 | |
96 | 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 | |
97 | 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 | |
98 | 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 | |
99 | 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 | |
100 | 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 | |
101 | 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 | |
102 | 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 | |
103 | 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 | |
104 | 2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 1 | 2 | |
105 | 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 | |
106 | 2018 | Williams–Beuren syndrome in diverse populations | Kruszka P.; Porras A.R.; de Souza D.H.; Moresco A.; Huckstadt V.; Gill A.D.; Boyle A.P.; Hu T.; Addissie Y.A.; Mok G.T.K.; Tekendo-Ngongang C.; Fieggen K.; Prijoles E.J.; Tanpaiboon P.; Honey E.; Luk H.-M.; Lo I.F.M.; Thong M.-K.; Muthukumarasamy P.; Jones K.L.; Belhassan K.; Ouldim K.; El Bouchikhi I.; Bouguenouch L.; Shukla A.; Girisha K.M.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Mishra R.; Kisling M.S.; Ferreira C.R.; de Herreros M.B.; NI-CHUNG LEE ; Jamuar S.S.; Lai A.; Tan E.S.; Ying Lim J.; Wen-Min C.B.; Gupta N.; Lotz-Esquivel S.; Badilla-Porras R.; Hussen D.F.; El Ruby M.O.; Ashaat E.A.; Patil S.J.; Dowsett L.; Eaton A.; Innes A.M.; Shotelersuk V.; Badoe ?.; Wonkam A.; Obregon M.G.; Chung B.H.Y.; Trubnykova M.; La Serna J.; Gallardo Jugo B.E.; Ch?vez Pastor M.; Abarca Barriga H.H.; Megarbane A.; Kozel B.A.; van Haelst M.M.; Stevenson R.E.; Summar M.; Adeyemo A.A.; Morris C.A.; Moretti-Ferreira D.; Linguraru M.G.; Muenke M. | American Journal of Medical Genetics, Part A | 52 | 52 | |
107 | 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 | |
108 | 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 | |
109 | 2018 | Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey | Mak C.C.; Leung G.K.; Mok G.T.; Yeung K.S.; Yang W.; Fung C.-W.; Chan S.H.; Lee S.-L.; NI-CHUNG LEE ; Pfundt R.; Lau Y.-L.; Chung B.H. | npj Genomic Medicine | 12 | 10 | |
110 | 2017 | Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions” | Hsiao C.-C.; NI-CHUNG LEE ; CHAO-WEN LIN ; Tsai T.-H. | Journal of the Formosan Medical Association | 0 | 0 | |
111 | 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 | |
112 | 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 | |
113 | 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 | |
114 | 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 | |
115 | 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 | |
116 | 2017 | Down syndrome in diverse populations | Kruszka P.; Porras A.R.; Sobering A.K.; Ikolo F.A.; La Qua S.; Shotelersuk V.; Chung B.H.Y.; Mok G.T.K.; Uwineza A.; Mutesa L.; Moresco A.; Obregon M.G.; Sokunbi O.J.; Kalu N.; Joseph D.A.; Ikebudu D.; Ugwu C.E.; Okoromah C.A.N.; Addissie Y.A.; Pardo K.L.; Brough J.J.; NI-CHUNG LEE ; Girisha K.M.; Patil S.J.; Ng I.S.L.; Min B.C.W.; Jamuar S.S.; Tibrewal S.; Wallang B.; Ganesh S.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Prabodha L.B.L.; Richieri-Costa A.; Muthukumarasamy P.; Thong M.-K.; Jones K.L.; Abdul-Rahman O.A.; Ekure E.N.; Adeyemo A.A.; Summar M.; Linguraru M.G.; Muenke M. | American Journal of Medical Genetics, Part A | 66 | 61 | |
117 | 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 | |
118 | 2017 | Russell–Silver syndrome presenting with ambiguous genitalia | Chang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 2 | 2 | |
119 | 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 | |
120 | 2017 | A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature review | Hsueh S.-J.; NI-CHUNG LEE ; SHU-HUA YANG ; Lin H.-I.; CHIN-HSIEN LIN | BMC Neurology | 5 | 5 | |
121 | 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 | 114 | 91 | |
122 | 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 | |
123 | 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 | |
124 | 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 | |
125 | 2016 | Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia | Hsiao C.-C.; NI-CHUNG LEE ; PEI-HSIN HUANG ; Tsai T.-H. | Journal of the Formosan Medical Association | 4 | 4 | |
126 | 2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
127 | 2016 | Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia | MENG-JU LI ; YUNG-LI YANG ; NI-CHUNG LEE ; SHIANN-TANG JOU ; MENG-YAO LU ; HSIU-HAO CHANG ; Lin K.-H.; Peng C.-T.; Lin D.-T. | Journal of the Formosan Medical Association | 12 | 9 | |
128 | 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 | |
129 | 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 | |
130 | 2016 | Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography | Liu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H. | Clinica Chimica Acta | 4 | 4 | |
131 | 2015 | Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair | Lo F.-S.; Wang C.-J.; Wong M.-C.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 19 | 16 | |
132 | 2015 | Congenital malformations in newborns - A challenge unmet for decades | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and Neonatology | 1 | 1 | |
133 | 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 | |
134 | 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 | |
135 | 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 | |
136 | 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 | |
137 | 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 | |
138 | 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 | |
139 | 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 | |
140 | 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 | |
141 | 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 | |
142 | 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 | |
143 | 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 | |
144 | 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 | |
145 | 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 | |
146 | 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 | |
147 | 2013 | Serial cytokine expressions in infants with incontinentia pigmenti | Liao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE ; Lee W.-I. | Immunobiology | 13 | 9 | |
148 | 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 | |
149 | 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 | 34 | 26 | |
150 | 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 | |
151 | 2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 129 | 107 | |
152 | 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 | |
153 | 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 | |
154 | 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 | |
155 | 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 | |
156 | 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 | |
157 | 2013 | Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy | Lee I.-C.; NI-CHUNG LEE ; Lu J.-J.; Su P.-H. | Journal of Child Neurology | 8 | 6 | |
158 | 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 | |
159 | 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 | |
160 | 2012 | Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia | KAI-CHI CHANG ; PO-HAN LIN ; Su Y.-N.; STEVEN SHINN-FORNG PENG ; NI-CHUNG LEE ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO | Journal of Bone and Mineral Metabolism | 14 | 12 | |
161 | 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 | |
162 | 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 | |
163 | 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 | |
164 | 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 | |
165 | 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 | |
166 | 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 | |
167 | 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 | |
168 | 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 | |
169 | 2011 | Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum | Tang S.; Wang J.; NI-CHUNG LEE ; Milone M.; Halberg M.C.; Schmitt E.S.; Craigen W.J.; Zhang W.; Wong L.-J.C. | Journal of Medical Genetics | 131 | 122 | |
170 | 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 | |
171 | 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 | |
172 | 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 | |
173 | 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 | |
174 | 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 | |
175 | 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 | |
176 | 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 | |
177 | 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 | |
178 | 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 | |
179 | 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 | |
180 | 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 | |
181 | 2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
182 | 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 | |
183 | 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 | |
184 | 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 | |
185 | 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 | |
186 | 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 | |
187 | 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 | |
188 | 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 | |
189 | 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 | |
190 | 2009 | Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR | Hung C.-C.; SHIN-YU LIN ; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE ; WEN-FANG CHENG ; Chen C.-P.; Lin, Win-Li ; CHIEN-NAN LEE ; Su Y.-N. | Electrophoresis | 5 | 6 | |
191 | 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 | |
192 | 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 | |
193 | 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 | |
194 | 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 | |
195 | 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 | |
196 | 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 | |
197 | 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 | |
198 | 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 | |
199 | 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 | |
200 | 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 | |
201 | 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 | |
202 | 2008 | Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency | Liu K.-M.; Liu T.-T.; NI-CHUNG LEE ; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. | Archives of Neurology | 22 | 14 | |
203 | 2008 | Screening for pompe disease and fabry disease | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Clinical Therapeutics | 1 | 1 | |
204 | 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 | |
205 | 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 | 13 | 13 | |
206 | 2006 | Corneal lesion as the initial manifestation of tyrosinemia type II | Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE ; Niu D.-M.; Lee S.-M.; Hsu W.-M. | Journal of the Chinese Medical Association | 13 | 0 | |
207 | 2006 | α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5] | NI-CHUNG LEE ; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. | Nephrology Dialysis Transplantation | 4 | 3 | |
208 | 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 | |
209 | 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 | |
210 | 2006 | Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency | NI-CHUNG LEE ; Cheng L.-Y.; Liu T.-T.; Hsiao K.-J.; Chiu P.-C.; Niu D.-M. | Molecular Genetics and Metabolism | 14 | 14 | |
211 | 2005 | Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis. | NI-CHUNG LEE ; Hwang B.; Chen C.H.; Niu D.M. | Journal of the Formosan Medical Association = Taiwan yi zhi | 3 | 3 | |
212 | 2004 | Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility | NI-CHUNG LEE ; Chen S.-J.; Tang R.-B.; Hwang B.-T. | Journal of the Chinese Medical Association | 22 | 0 | |
213 | 2004 | Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism | Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE ; Lin C.-Y. | Acta Paediatrica, International Journal of Paediatrics | 5 | 2 | |
214 | 2003 | Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case Report | NI-CHUNG LEE ; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C. | Acta Cardiologica Sinica | 0 | ||
215 | 2003 | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case | NI-CHUNG LEE ; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F. | Acta Paediatrica Taiwanica | 2 | 0 |