研究成果


第 1 到 215 筆結果，共 215 筆。

公開日期標題作者來源出版物scopusWOS全文
12024Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insightsHUI-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
22024Gene therapy corrects the neurological deficits of mice with sialidosisWUH-LIANG ​​HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN Gene therapy
32024Ethnically unique disease burden and limitations of current expanded carrier screening panelsCHIH-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 Obstetrics00
42023Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5Chen, 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 Society20
52023Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiencyHsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG ​​HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN Orphanet journal of rare diseases
62023Curated incidence of lysosomal storage diseases from the Taiwan BiobankTsai, Meng-Ju Melody; Hung, Miao-Zi; Lin, Yi-Lin; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU NPJ genomic medicine00
72023Changing clinical manifestations of Gaucher disease in TaiwanLu, 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 diseases00
82023Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiencyChen, Pin-Wen; WUH-LIANG ​​HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN Molecular genetics and metabolism10
92023Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver DiseasesChen, 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 Pediatrics10
102023Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type CChen, Tsu-I; Hsu, Pei-Chun; NI-CHUNG LEE ; Liu, Yu-Han; Wang, Hao-Chun; Lu, Yen-Hsu; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Heliyon00
112023Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type IaHsu, 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 medicine00
122023Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia populationHsu, 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 medicine00
132023Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up StudyFan, 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 Disorders2
142023A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7Lee, 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 nutrition53
152023An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolismWang, 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 chemistry00
162023Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystoniaChen, 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 disorders11
172023Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutationWu, Jeng-Hung; Wang, Yu-Jui; JAU-YU LIAU ; NI-CHUNG LEE ; EN-TING WU Pediatrics and neonatology00
182023Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen DefectChou, 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 & technology31
192023Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe diseaseHsu, 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 Genetics64
202023DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrumChung, Chi-Ting; NI-CHUNG LEE ; Fan, Sung-Pin; Hung, Miao-Zi; YEN-HENG LIN ; CHIH-HAO CHEN ; Tun JaoEpilepsy and Behavior Reports21
212023The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case reportLi, Cheng-Hsuan; NI-CHUNG LEE ; Lin, Kun-Ju; Hsiao, Ing-Tsung; Weng, Yi-Hsin; CHIN-HSIEN LIN NEUROLOGY ASIA00
222023B-cell Immunodeficiency in a Patient with Pearson SyndromeChen, Yu-Chia; SHIANN-TANG JOU ; NI-CHUNG LEE ; BOR-LUEN CHIANG ; HSIN-HUI YU Journal of clinical immunology00
232023Diagnostic Challenges of Neuromuscular Disorders after Whole Exome SequencingChen, 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 diseases11
242022Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe diseaseLi, 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-ChiehBioorganic & medicinal chemistry20
252022The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosisHSUEH-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 zhi11
262022Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free courseChiang, 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 hepatology11
272022The incorporation of next-generation sequencing into pediatric careNI-CHUNG LEE Pediatrics and neonatology11
282022A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndromeChu, 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 medicine22
292022Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathyHsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU Pediatrics and neonatology00
302022Asymptomatic ASS1 carriers with high blood citrulline levelsHUI-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 medicine21
312022Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3NI-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 Reports55
322022Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndromeOu, Tsung-Ying; Tsai, Meng-Che; Kuo, Pao-Lin; NI-CHUNG LEE ; Chou, Yen-YinTaiwanese journal of obstetrics & gynecology00
332022Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature reviewTsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; YI-CHING TUNG Journal of the Formosan Medical Association = Taiwan yi zhi22
342022Outcome of Later-Onset Pompe Disease Identified Through Newborn ScreeningNI-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 pediatrics73
352022Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant PrioritizationHuang, 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 Biotechnology00
362022Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, 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 Association97
372022Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion SyndromeLin, 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 endocrinology32
382022A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulationsLin I.-T.; NI-CHUNG LEE ; Fan, Sung-Pin; Huang C.-J.; Cheng P.; Chen J.-H.; CHIN-HSIEN LIN Parkinsonism and Related Disorders21
392022Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier testHUI-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 Metabolism85
402022Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiencyTai, 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 Therapy4844
412022High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in TaiwanHUI-AN CHEN ; Hsu, Rai-Hseng; Chen, Pin-Wen; NI-CHUNG LEE ; Chiu P.-C.; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN Molecular Genetics and Metabolism Reports74
422022Comparison of GATK and DeepVariant by trio sequencingLin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; YIN-HSIU CHIEN ; WUH-LIANG ​​HWU ; FEI-PEI LAI ; NI-CHUNG LEE Scientific reports1813
432022Impact of genetic tests on survivors of paediatric sudden cardiac arrestSHUENN-NAN CHIU ; JYH-MING JIMMY JUANG ; WEI-CHIEH TSENG ; Chen, Wen-Pin; NI-CHUNG LEE ; MEI-HWAN WU Archives of Disease in Childhood00
442022Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in TaiwanYIN-HSIU CHIEN ; NI-CHUNG LEE ; WEN-CHIN WENG ; Chen L.-C.; Huang Y.-H.; Wu C.-S.; WUH-LIANG ​​HWU Neurological Sciences1410
452021Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutationSu, Tzu-Hsuan; NI-CHUNG LEE ; Wu, Chao-Szu; STEVEN SHINN-FORNG PENG ; PI-CHUAN FAN Journal of the Formosan Medical Association = Taiwan yi zhi00
462021CTLA-4 gene mutation and multiple sclerosis: A case report and literature reviewLin, 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 zhi33
472021NAXE gene mutation-related progressive encephalopathy: A case report and literature reviewChiu, 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-YuMedicine54
482021Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial HeterogeneityLi, Jeng-Lin; NI-CHUNG LEE ; Chen, Pin-Shiuan; Lee, Gin Hoong; RUEY-MEEI WU Movement disorders clinical practice32
492021Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndromeFan, Sung-Pin; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; Chang, Koping; NI-CHUNG LEE ; PEI-HSIN HUANG ; Yang, Chih-ChaoeNeurologicalSci10
502021Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weaknessCheng, 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 Practice11
512021Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst developmentWu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE Journal of assisted reproduction and genetics1110
522021A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from TaiwanKuo, 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-ChaoNeuromuscular disorders : NMD33
532021A novel deep intronic variant strongly associates with AlkaptonuriaLai 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 Medicine55
542021PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case ReportsChang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE ; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-YowFrontiers in pediatrics55
552021A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe diseaseZeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN Scientific Reports11
562021Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathyCHIH-LING CHEN ; CHIEN-NAN LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang T.-M.; NI-CHUNG LEE Children33
572021Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28Chen 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 Disorders00
582021CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screeningWEN-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 Genetics138
592021Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent OligohydramniosSHIN-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 Genetics11
602021Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflexYan Y.J.; Tsai Y.C.; MEI-LAN KO ; NI-CHUNG LEE ; Chiou J.C.; Ou-Yang M.Review of Scientific Instruments22
612021RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patientsHuang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN ; Wang Y.-T.; WUH-LIANG HWU ; NI-CHUNG LEE Scientific Data33
622020Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathyCHIN-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 neurology2932
632020Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case reportChang, Kai-Chieh; Kuo, Yih-Chih; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; Yang, Chih-Chao; SUNG-TSANG HSIEH ; CHI-CHAO CHAO eNeurologicalSci00
642020UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosisLiao, 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 zhi11
652020A case of GNE myopathy mimicking hereditary motor neuropathyHuang 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 neurology44
662020Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2PAUL-CHEN HSIEH ; Chen-Chi Wu ; NI-CHUNG LEE ; JUNG-HSIEN HSIEH ; YI-HUA LIAO Dermatologica Sinica00
672020Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesKuo 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 Medicine99
682020Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemmaWeng, Hui-Ling; FENG-JUNG YANG ; YIN-HSIU CHIEN ; PEY-RONG CHEN ; Lin, Zi-Xuan; NI-CHUNG LEE ; WUH-LIANG HWU Journal of nephrology00
692020Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiencesYIN-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 Reports2826
702020The timely needs for infantile onset pompe disease newborn screening—practice in TaiwanChiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU International Journal of Neonatal Screening11
712020Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohortChen, 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 Genetics00
722020Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 geneFan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN Journal of the Formosan Medical Association127
732020Diversity in heritable disorders of connective tissue at a single centerHsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Connective Tissue Research42
742020De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromeKao 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 Mutation22
752020Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain CalcificationFan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN Movement Disorders99
762020Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newbornsYIN-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 Diseases3838
772020Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical centerLiu 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 Association30
782020REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sampleNI-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 Association1414
792020Dietary intake and nutritional status of patients with phenylketonuria in TaiwanWeng, Hui-Ling; FENG-JUNG YANG ; PEY-RONG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN Scientific reports43
802020Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease miceNI-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 Reports22
812020Cardiac manifestations and gene mutations of patients with RASopathies in TaiwanLee 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 A77
822020Towards a reference genome that captures global genetic diversityWong, 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-YanNature Communications1516
832020Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down SyndromeFang 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 Neuroscience44
842019Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseYu 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 Medicine2723
852019Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiencyHo S.-Y.; YIN-HSIU CHIEN ; LI-KAI TSAI ; Muramatsu S.-I.; WUH-LIANG HWU ; HORNG-HUEI LIOU ; NI-CHUNG LEE Frontiers in Cellular Neuroscience22
862019A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU American Journal of Medical Genetics, Part C: Seminars in Medical Genetics139
872019Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegsHsu 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 Neonatology22
882019Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese populationChen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN Brain and Behavior107
892019Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrumCHENG-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 A55
902019Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiencyHSIN-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 Infection54
912019Clinical features of Pompe disease with motor neuronopathyLI-KAI TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE ; PEI-HSIN HUANG ; YIN-HSIU CHIEN Neuromuscular Disorders97
922019Decreased 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 treatmentMolema 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-IMDMolecular Genetics and Metabolism2520
932019Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationHsu 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 Diseases1614
942019Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsChu 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 Diseases2421
952019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU Annals of Neurology2018
962019Congenital generalized lipodystrophy in TaiwanHsu 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 Association118
972019Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmiaJYH-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 Medicine21
982019Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segmentsLuo 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 America97
992019Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryMolema 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-IMDJournal of Inherited Metabolic Disease3321
1002019Critical 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 Medicine2723
1012018A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceNI-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 Neurobiology2427
1022018Biparental inheritance of mitochondrial DNA in humansLuo 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 America263227
1032018Natural history of aromatic L-amino acid decarboxylase deficiency in TaiwanWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H.JIMD Reports3031
1042018Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe diseaseChiang 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 Screening150
1052018Functional independence of Taiwanese children with Prader–Willi syndromeLee 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 A12
1062018SHOX deficiency in short Taiwanese children: A single-center experienceYI-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 Association22
1072018Williams–Beuren syndrome in diverse populationsKruszka 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 A5252
1082018Disease 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 Neurology54
1092018Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odysseyMak 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 Medicine1210
1102017Reply 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 Association00
1112017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseYIN-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 Reports98
1122017Newborn screening for severe combined immunodeficiency in TaiwanYIN-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 Screening380
1132017A Review of Biomarkers for Alzheimer’s Disease in Down SyndromeNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Neurology and Therapy170
1142017A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature reviewHsueh S.-J.; NI-CHUNG LEE ; SHU-HUA YANG ; Lin H.-I.; CHIN-HSIEN LIN BMC Neurology55
1152017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningYIN-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 Pediatrics11491
1162017Gene therapy with modified U1 small nuclear RNAWUH-LIANG HWU ; Lee Y.-M.; NI-CHUNG LEE Expert Review of Endocrinology and Metabolism30
1172017Down syndrome in diverse populationsKruszka 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 A6661
1182017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseZeng Y.-T.; WUH-LIANG HWU ; Torng P.-C.; NI-CHUNG LEE ; JENG-YI SHIEH ; LU LU ; YIN-HSIU CHIEN European Journal of Paediatric Neurology1312
1192017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialYIN-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 Health9588
1202017Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's diseaseNI-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 Neuroscience4436
1212017Russell–Silver syndrome presenting with ambiguous genitaliaChang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; NI-CHUNG LEE Journal of the Formosan Medical Association22
1222016Advances in newborn screening for Pompe disease and resulting clinical outcomesYIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Expert Opinion on Orphan Drugs00
1232016Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene AymeSTEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN Orphanet Journal of Rare Diseases1719
1242016Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyLiu 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 Acta44
1252016Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegiaHsiao C.-C.; NI-CHUNG LEE ; PEI-HSIN HUANG ; Tsai T.-H. Journal of the Formosan Medical Association44
1262016Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase geneNI-CHUNG LEE ; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU Human Molecular Genetics1816
1272016Integrated care for Down syndromeNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Congenital Anomalies11
12820163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyYIN-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 Metabolism5142
1292016Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemiaMENG-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 Association129
1302016Long-term outcome for Down syndrome patients with hematopoietic disordersMENG-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 Association54
1312015Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screeningYIN-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 Reports290
1322015Congenital malformations in newborns - A challenge unmet for decadesNI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU Pediatrics and Neonatology11
1332015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyNI-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 Therapy2119
1342015Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birthYIN-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 Pediatrics10589
1352015Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutationHsiue 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 Medicine11
1362015Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hairLo F.-S.; Wang C.-J.; Wong M.-C.; NI-CHUNG LEE American Journal of Medical Genetics, Part A1916
1372014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismI-JUNG TSAI ; WUH-LIANG HWU ; SHU-CHIEN HUANG ; NI-CHUNG LEE ; EN-TING WU ; YIN-HSIU CHIEN ; Tsau Y.-K.Pediatric Nephrology1413
1382014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorNI-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 Therapy1515
1392014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry65
1402014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Muscle and Nerve66
1412014Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfectaLin 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 Neonatology98
1422014Outcome of early-treated type III Gaucher disease patientsNI-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 Diseases2218
1432014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsChen P.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU Clinica Chimica Acta2927
1442013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsWUH-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, 201200
1452013Erratum: 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 Disease01
1462013Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathyLee I.-C.; NI-CHUNG LEE ; Lu J.-J.; Su P.-H.Journal of Child Neurology86
1472013Serial cytokine expressions in infants with incontinentia pigmentiLiao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE ; Lee W.-I.Immunobiology139
1482013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originWang J.; Cui H.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W.Genetics in Medicine6447
1492013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionYIN-HSIU CHIEN ; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE ; WUH-LIANG HWU Molecular Genetics and Metabolism2824
1502013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyNI-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 Disease3330
1512013Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationChen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE Human Mutation1312
1522013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CYIN-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 Disease3234
1532013Pompe disease: Early diagnosis and early treatment make a differenceYIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE Pediatrics and Neonatology129107
1542013AADC deficiency. Occurring in humans, modeled in rodents.WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology129
1552013Promising outcomes in glutaric aciduria type i patients detected by newborn screeningLee 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 Disease3426
1562013Fatty acid oxidation disorders in a chinese population in TaiwanYIN-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 Reports250
1572013Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsWang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN BMC Medical Genetics2624
1582012Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencingKim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.Molecular Genetics and Metabolism2824
1592012Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring systemChen 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 Pediatrics1512
1602012Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasiaKAI-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 Metabolism1412
1612012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Hsu L.-W.; YIN-HSIU CHIEN Molecular Genetics and Metabolism6963
1622012A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a childLiu 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 Neonatology109
1632012Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationLi 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 Neurology1310
1642012Fabry 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.)6959
1652012An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic deliveryNI-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 Therapy40
1662012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU Pediatric Neurology2016
1672012Gene therapy for aromatic L-amino acid decarboxylase deficiencyWUH-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 Medicine188170
1682011Rapid progressive course of later-onset Pompe disease in Chinese patientsYang 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 Metabolism3938
1692011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyCHUN-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 Failure2724
1702011Congenital hypopituitarism due to POU1F1 gene mutationNI-CHUNG LEE ; Tsai W.-Y.; STEVEN SHINN-FORNG PENG ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU Journal of the Formosan Medical Association76
1712011Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrumTang 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 Genetics131122
1722011Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemiaWei S.-H.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; WANG-TSO LEE Journal of Child Neurology1111
1732011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningYIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Journal of Pediatrics8470
1742011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseYIN-HSIU CHIEN ; Olivova P.; Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE ; Keutzer J.; WUH-LIANG HWU Molecular Genetics and Metabolism109
1752010Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in TaiwanCheng 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 Association1812
1762010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyChang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN Blood Cells, Molecules, and Diseases1715
1772010Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationChen P.W.; WUH-LIANG HWU ; MING-CHIH HO ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YEN-HSUAN NI ; PO-HUANG LEE Pediatric Transplantation3332
1782010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningNI-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 Metabolism8464
1792010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programLabrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU Molecular Genetics and Metabolism9279
1802010Enzyme replacement therapy for mucopolysaccharidosis VI-experience in TaiwanLin 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 Disease1915
1812010FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndromeLin 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 Medicine64
1822010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseYIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism22
1832010Newborn screening for neuropathic lysosomal storage disordersWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE Journal of Inherited Metabolic Disease2119
1842010Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpointsNI-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 A1615
1852009Eye 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 vision2619
1862009Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCRHung 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.Electrophoresis56
1872009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentYIN-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 Pediatrics182160
1882009Somatic and germ-line mosaicism in Rubinstein-Taybi syndromeChiang P.-W.; NI-CHUNG LEE ; Chien N.; WUH-LIANG HWU ; Spector E.; Tsai A.C.-H.American Journal of Medical Genetics, Part A3230
1892009Glycogen Storage Disease Type Ib: The First Case in TaiwanHsiao H.-J.; HSIU-HAO CHANG ; WUH-LIANG HWU ; Lam C.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN Pediatrics and Neonatology43
1902009Caloric restriction in Alstr?m syndrome prevents hyperinsulinemiaNI-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 A1816
1912009Newborn 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 Mutation287257
1922009Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor bandingNI-CHUNG LEE ; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU ; Ming C.Prenatal Diagnosis54
1932009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiNI-CHUNG LEE ; Huang C.H.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chang Y.Y.; Chen C.H.; TSANG-MING KO Clinical Genetics76
1942009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseChen 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 Pediatrics5442
1952009Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisationNI-CHUNG LEE ; Dimmock D.; WUH-LIANG HWU ; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.Archives of Disease in Childhood2918
1962008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanYIN-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 Health80
1972008Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiencyLiu K.-M.; Liu T.-T.; NI-CHUNG LEE ; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M.Archives of Neurology2214
1982008Screening for pompe disease and fabry diseaseWUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE Clinical Therapeutics11
1992008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaNI-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 Neurology2220
2002008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewTING-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 Pediatrics4939
2012008Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and CardiomyopathyWang S.-B.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; PI-CHUAN FAN ; WANG-TSO LEE Pediatrics and Neonatology490
2022008Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiencyChen 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 Nutrition2110
2032008Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening programYIN-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 Pediatrics207178
2042007Treatment 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 disease4336
2052007Deficiency 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 disease1313
2062006α-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 Transplantation43
2072006Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyNI-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 Disease2815
2082006Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiencyNI-CHUNG LEE ; Cheng L.-Y.; Liu T.-T.; Hsiao K.-J.; Chiu P.-C.; Niu D.-M.Molecular Genetics and Metabolism1414
2092006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyYIN-HSIU CHIEN ; NI-CHUNG LEE ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU Pediatric Research7362
2102006Corneal lesion as the initial manifestation of tyrosinemia type IITsai C.-P.; Lin P.-Y.; NI-CHUNG LEE ; Niu D.-M.; Lee S.-M.; Hsu W.-M.Journal of the Chinese Medical Association130
2112005Intrafamilial 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 zhi33
2122004Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibilityNI-CHUNG LEE ; Chen S.-J.; Tang R.-B.; Hwang B.-T.Journal of the Chinese Medical Association220
2132004Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidismNiu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE ; Lin C.-Y.Acta Paediatrica, International Journal of Paediatrics52
2142003Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case ReportNI-CHUNG LEE ; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C.Acta Cardiologica Sinica0
2152003Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One CaseNI-CHUNG LEE ; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F.Acta Paediatrica Taiwanica20