Results 1-177 of 177 (Search time: 0.013 seconds).

Issue DateTitleAuthor(s)SourcescopusWOSFulltext/Archive link
12022Short 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 ; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi00
22022Outcome 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; Hwu, Wuh-Liang; Chien, Yin-HsiuThe Journal of pediatrics11
32022Impact of genetic tests on survivors of paediatric sudden cardiac arrestChiu S.-N.; Juang J.-M.J.; Tseng W.-C.; Chen W.-P.; NI-CHUNG LEE ; Wu M.-H.Archives of Disease in Childhood00
42022Comparison of GATK and DeepVariant by trio sequencingLin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE Scientific Reports00
52022Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiencyTai C.-H.; NI-CHUNG LEE ; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L.Molecular Therapy15
62021Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutationSu, Tzu-Hsuan; NI-CHUNG LEE ; Wu, Chao-Szu; Peng, Steven Shinn-Forng; Fan, Pi-ChuanJournal of the Formosan Medical Association = Taiwan yi zhi00
72021NAXE 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-YuMedicine33
82021Leukoencephalopathy 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; Wu, Ruey-MeeiMovement disorders clinical practice11
92021Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE ; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi33
102021Suboptimal 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 genetics98
112021RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patientsHuang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; Hwu W.-L.; NI-CHUNG LEE Scientific Data00
122021A 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.; Hwu W.-L.; NI-CHUNG LEE ; Lin C.-Y.; Chien Y.-H.Scientific Reports00
132021Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28Chen P.-S.; NI-CHUNG LEE ; Fan S.-P.; Tai C.-H.; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; Lin C.-H.Movement Disorders00
142021PAX2 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 pediatrics00
152021Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndromeFan S.-P.; Hsueh H.-W.; Huang H.-C.; Chang K.; NI-CHUNG LEE ; Huang P.-H.; Yang C.-C.eNeurologicalSci00
162021A novel deep intronic variant strongly associates with AlkaptonuriaLai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE npj Genomic Medicine22
172021A 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, Hsueh-Wen; Hsueh, Sung-Ju; NI-CHUNG LEE ; Hsieh, Ming-Ju; Chao, Chi-Chao; Chien, Yin-Hsiu; Huang, Pei-Hsin; Yang, Chih-ChaoNeuromuscular disorders : NMD11
182021Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathyChen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE Children00
192021Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflexYan Y.J.; Tsai Y.C.; Ko M.L.; NI-CHUNG LEE ; Chiou J.C.; Ou-Yang M.Review of Scientific Instruments11
202021CTLA-4 gene mutation and multiple sclerosis: A case report and literature reviewLin T.-W.; Hu Y.-C.; Yang Y.-H.; Chien Y.-H.; NI-CHUNG LEE ; Yu H.-H.; Chiang B.-L.; Wang L.-C.Journal of Microbiology, Immunology and Infection22
212021CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screeningWeng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; NI-CHUNG LEE ; Chien, Yin-HsiuGenetics in medicine : official journal of the American College of Medical Genetics33
222021Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent OligohydramniosLin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; NI-CHUNG LEE Frontiers in Genetics00
232020Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathyLin, Chin-Hsien; 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; Tzeng, Shiou-Ru; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; Yen, Ruoh-Fang; NI-CHUNG LEE ; Lo, Wen-Chun; Hung, Yu-Chien; Chan, Chih-Chiang; Ke, Yi-Ci; Chao, Chi-Chao; Hsieh, Sung-Tsang; Farrer, Matthew; Wu, Ruey-MeeiBrain : a journal of neurology1919
242020UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosisLiao, Chun-Hua; NI-CHUNG LEE ; Jou, Shiann-Tarng; Chiang, Bor-Luen; Yu, Hsin-HuiJournal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi00
252020UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosisLiao, Chun-Hua; NI-CHUNG LEE ; Jou, Shiann-Tarng; Chiang, Bor-Luen; Yu, Hsin-HuiJournal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi00
262020Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case reportChang, Kai-Chieh; Kuo, Yih-Chih; Hsueh, Hsueh-Wen; NI-CHUNG LEE ; Yang, Chih-Chao; Hsieh, Sung-Tsang; Chao, Chi-ChaoeNeurologicalSci00
272020A case of GNE myopathy mimicking hereditary motor neuropathyHuang, Y-N; Chuang, H-J; Hsueh, H-W; Huang, H-C; NI-CHUNG LEE ; Chao, C-C; Huang, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-TEuropean journal of neurology11
282020Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2Hsieh P.-C.; Wu C.-C.; NI-CHUNG LEE ; Hsieh J.-H.; Liao Y.-H.Dermatologica Sinica00
292020The timely needs for infantile onset pompe disease newborn screening—practice in TaiwanChiang S.-C.; Chien Y.-H.; Chang K.-L.; NI-CHUNG LEE ; Hwu W.-L.International Journal of Neonatal Screening00
302020Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemmaWeng H.-L.; Yang F.-J.; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; NI-CHUNG LEE ; Hwu W.-L.Journal of Nephrology00
312020Diversity in heritable disorders of connective tissue at a single centerHsu R.-H.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE Connective Tissue Research00
322020Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohortChen S.-J.; Lee B.-C.; NI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.; Lin C.-H.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics00
332020Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical centerLiu M.-Y.; Lee C.-T.; NI-CHUNG LEE ; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.Journal of the Formosan Medical Association10
342020Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease miceNI-CHUNG LEE ; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H.Scientific Reports00
352020Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain CalcificationFan S.-P.; NI-CHUNG LEE ; Lin C.-H.Movement Disorders11
362020Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newbornsChien Y.-H.; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L.Orphanet Journal of Rare Diseases1918
372020REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sampleNI-CHUNG LEE ; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; Hwu W.-L.; Lee P.-L.Journal of the Formosan Medical Association76
382020Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 geneFan S.-P.; NI-CHUNG LEE ; Lin C.-H.Journal of the Formosan Medical Association55
392020Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesKuo C.-W.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; NI-CHUNG LEE Molecular Genetics and Genomic Medicine33
402020Cardiac manifestations and gene mutations of patients with RASopathies in TaiwanLee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; Hwu W.-L.; NI-CHUNG LEE ; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K.; 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 A55
412020Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiencesChien Y.-H.; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; Hwu W.-L.Molecular Genetics and Metabolism Reports911
422020Dietary intake and nutritional status of patients with phenylketonuria in TaiwanWeng H.-L.; Yang F.-J.; Chen P.-R.; Hwu W.-L.; NI-CHUNG LEE ; Chien Y.-H.Scientific Reports21
432020De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromeKao H.-J.; Chiang H.-L.; Chen H.-H.; Fan P.-C.; Tu Y.-F.; Chou Y.-Y.; Hwu W.-L.; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE Human Mutation22
442020Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down SyndromeFang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE ; Chiu M.-J.ACS Chemical Neuroscience34
452020Towards 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 ; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-YanNature Communications1012
462019Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmiaJuang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.Genetics in Medicine00
472019A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanNI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics65
482019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng C.-H.; Chien Y.-H.; NI-CHUNG LEE ; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; Hwu W.-L.Annals of Neurology1010
492019Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; NI-CHUNG LEE Pediatric Critical Care Medicine1313
502019Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese populationChen S.-J.; NI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.; Lin C.-H.Brain and Behavior42
512019Reply 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.; Chien Y.-H.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America77
522019Clinical features of Pompe disease with motor neuronopathyTsai L.-K.; Hwu W.-L.; NI-CHUNG LEE ; Huang P.-H.; Chien Y.-H.Neuromuscular Disorders42
532019Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationHsu R.-H.; Chien Y.-H.; Hwu W.-L.; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE Orphanet Journal of Rare Diseases99
542019Decreased 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.; Hwu W.-L.; Chien Y.-H.; 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 Metabolism2017
552019Evaluation 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.; Hwu W.-L.; Chien Y.-H.; 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 Disease1711
562019Primary 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.; Hwu W.-L.; Chien Y.-H.; 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 Medicine1515
572019Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegsHsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; NI-CHUNG LEE Pediatrics and Neonatology22
582019Congenital 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.; Chien Y.-H.; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE Journal of the Formosan Medical Association76
592019Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiencyHo S.-Y.; Chien Y.-H.; Tsai L.-K.; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; NI-CHUNG LEE Frontiers in Cellular Neuroscience22
602019Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiencyYu H.-H.; Hu T.-C.; NI-CHUNG LEE ; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chiang B.-L.Journal of Microbiology, Immunology and Infection54
612019Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsChu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.Orphanet Journal of Rare Diseases1615
622019Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrumLee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; NI-CHUNG LEE American Journal of Medical Genetics, Part A44
632018Natural history of aromatic L-amino acid decarboxylase deficiency in TaiwanHwu W.-L.; Chien Y.-H.; NI-CHUNG LEE ; Li M.-H.JIMD Reports190
642018Williams–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 A4040
652018A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceNI-CHUNG LEE ; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; Chien Y.-H.Molecular Neurobiology1721
662018Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?Chien Y.-H.; NI-CHUNG LEE ; Hwu W.-L.; Fang J.-Y.European Journal of Neurology54
672018Biparental 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.; Chien Y.-H.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America198177
682018SHOX deficiency in short Taiwanese children: A single-center experienceTung Y.-C.; NI-CHUNG LEE ; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.Journal of the Formosan Medical Association22
692018Functional 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.; Chien Y.-H.; 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 A02
702018Exome 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 Medicine98
712018Performance 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.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; Chien Y.-H.International Journal of Neonatal Screening810
722017Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”Hsiao C.-C.; NI-CHUNG LEE ; Lin C.-W.; Tsai T.-H.Journal of the Formosan Medical Association00
732017Newborn screening for severe combined immunodeficiency in TaiwanChien Y.-H.; Yu H.-H.; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L.International Journal of Neonatal Screening300
742017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialChien Y.-H.; NI-CHUNG LEE ; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.The Lancet Child and Adolescent Health6262
752017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseChien Y.-H.; Hwu W.-L.; NI-CHUNG LEE ; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.Molecular Genetics and Metabolism Reports87
762017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningChien Y.-H.; Chiang S.-C.; Weng W.-C.; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.Journal of Pediatrics7867
772017Russell–Silver syndrome presenting with ambiguous genitaliaChang I.-F.; Chien Y.-H.; Tsai W.-Y.; NI-CHUNG LEE Journal of the Formosan Medical Association11
782017A Review of Biomarkers for Alzheimer’s Disease in Down SyndromeNI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.Neurology and Therapy1310
792017Gene therapy with modified U1 small nuclear RNAHwu W.-L.; Lee Y.-M.; NI-CHUNG LEE Expert Review of Endocrinology and Metabolism11
802017Down 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 A5354
812017A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature reviewHsueh S.-J.; NI-CHUNG LEE ; Yang S.-H.; Lin H.-I.; Lin C.-H.BMC Neurology44
822017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseZeng Y.-T.; Hwu W.-L.; Torng P.-C.; NI-CHUNG LEE ; Shieh J.-Y.; Lu L.; Chien Y.-H.European Journal of Paediatric Neurology1111
832017Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's diseaseNI-CHUNG LEE ; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J.Frontiers in Aging Neuroscience4033
842016Advances in newborn screening for Pompe disease and resulting clinical outcomesChien Y.-H.; Hwu W.-L.; NI-CHUNG LEE Expert Opinion on Orphan Drugs0
852016Integrated care for Down syndromeNI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.Congenital Anomalies11
862016Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyLiu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; Chien Y.-H.; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H.Clinica Chimica Acta44
872016Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene AymePeng S.S.-F.; Hwu W.-L.; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.Orphanet Journal of Rare Diseases1719
882016Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemiaLi M.-J.; Yang Y.-L.; NI-CHUNG LEE ; Jou S.-T.; Lu M.-Y.; Chang H.-H.; Lin K.-H.; Peng C.-T.; Lin D.-T.Journal of the Formosan Medical Association86
892016Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase geneNI-CHUNG LEE ; Lee Y.-M.; Chen P.-W.; Byrne B.J.; Hwu W.-L.Human Molecular Genetics1615
902016Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegiaHsiao C.-C.; NI-CHUNG LEE ; Huang P.-H.; Tsai T.-H.Journal of the Formosan Medical Association44
9120163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyChien Y.-H.; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.Molecular Genetics and Metabolism3130
922016Long-term outcome for Down syndrome patients with hematopoietic disordersLi M.-J.; NI-CHUNG LEE ; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.Journal of the Formosan Medical Association43
932015Mortality, 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.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.Intensive Care Medicine11
942015Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screeningChien Y.-H.; Goldstein J.L.; Hwu W.-L.; 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 Reports240
952015Moyamoya 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 A1715
962015Congenital malformations in newborns - A challenge unmet for decadesNI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.Pediatrics and Neonatology11
972015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyNI-CHUNG LEE ; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.Molecular Therapy1715
982015Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birthChien Y.-H.; NI-CHUNG LEE ; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.Journal of Pediatrics7873
992014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseChien Y.-H.; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.Muscle and Nerve55
1002014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsChen P.-W.; NI-CHUNG LEE ; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; Hwu W.-L.Clinica Chimica Acta2523
1012014Outcome of early-treated type III Gaucher disease patientsNI-CHUNG LEE ; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.Blood Cells, Molecules, and Diseases1615
1022014Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfectaLin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; NI-CHUNG LEE Pediatrics and Neonatology55
1032014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorNI-CHUNG LEE ; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.Human Gene Therapy1313
1042014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismTsai I.-J.; Hwu W.-L.; Huang S.-C.; NI-CHUNG LEE ; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.Pediatric Nephrology1313
1052014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesHwu W.-L.; Chien Y.-H.; NI-CHUNG LEE ; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry55
1062013Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathyLee I.-C.; NI-CHUNG LEE ; Lu J.-J.; Su P.-H.Journal of Child Neurology76
1072013Serial cytokine expressions in infants with incontinentia pigmentiLiao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE ; Lee W.-I.Immunobiology108
1082013Fatty acid oxidation disorders in a chinese population in TaiwanChien Y.-H.; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; Hwu W.-L.JIMD Reports230
1092013Promising outcomes in glutaric aciduria type i patients detected by newborn screeningLee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; NI-CHUNG LEE Metabolic Brain Disease3022
1102013AADC deficiency. Occurring in humans, modeled in rodents.Hwu W.-L.; NI-CHUNG LEE ; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology120
1112013Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsWang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE ; Chien Y.-H.BMC Medical Genetics1717
1122013Pompe disease: Early diagnosis and early treatment make a differenceChien Y.-H.; Hwu W.-L.; NI-CHUNG LEE Pediatrics and Neonatology10788
1132013Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationChen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; NI-CHUNG LEE Human Mutation1211
1142013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsHwu W.-L.; NI-CHUNG LEE ; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 201200
1152013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionChien Y.-H.; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE ; Hwu W.-L.Molecular Genetics and Metabolism2320
1162013Erratum: 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.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P.Journal of Inherited Metabolic Disease01
1172013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyNI-CHUNG LEE ; Shieh Y.-D.; Chien Y.-H.; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.Neurobiology of Disease2725
1182013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CChien Y.H.; Peng S.F.; Yang C.C.; NI-CHUNG LEE ; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.Journal of Inherited Metabolic Disease2932
1192013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originWang J.; Cui H.; NI-CHUNG LEE ; Hwu W.-L.; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.Genetics in Medicine5844
1202012An 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.; Chien Y.-H.; Hwu W.-L.Genetic Vaccines and Therapy30
1212012Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring systemChen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; NI-CHUNG LEE ; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.Journal of Pediatrics1211
1222012Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasiaChang K.-C.; Lin P.-H.; Su Y.-N.; Peng S.S.-F.; NI-CHUNG LEE ; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.Journal of Bone and Mineral Metabolism1211
1232012Gene therapy for aromatic L-amino acid decarboxylase deficiencyHwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; NI-CHUNG LEE ; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.Science Translational Medicine149144
1242012Late 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 ; Hwu P.W.L.; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.Molecular Genetics and Metabolism2623
1252012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseChien Y.-H.; NI-CHUNG LEE ; Huang P.-H.; Lee W.-T.; Thurberg B.L.; Hwu W.-L.Pediatric Neurology1815
1262012Fabry 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.Chien Y.H.; NI-CHUNG LEE ; Chiang S.C.; Desnick R.J.; Hwu W.L.Molecular medicine (Cambridge, Mass.)5953
1272012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; Hwu W.-L.; NI-CHUNG LEE ; Hsu L.-W.; Chien Y.-H.Molecular Genetics and Metabolism5352
1282012Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationLi S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; NI-CHUNG LEE Journal of Child Neurology109
1292012A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a childLiu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; NI-CHUNG LEE Pediatrics and Neonatology109
1302011Rapid progressive course of later-onset Pompe disease in Chinese patientsYang C.-C.; Chien Y.-H.; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.Molecular Genetics and Metabolism3535
1312011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningChien Y.-H.; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.Journal of Pediatrics7865
1322011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyChen C.-A.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE ; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.Journal of Cardiac Failure2321
1332011Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemiaWei S.-H.; Weng W.-C.; NI-CHUNG LEE ; Hwu W.-L.; Lee W.-T.Journal of Child Neurology1011
1342011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseChien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE ; Keutzer J.; Hwu W.-L.Molecular Genetics and Metabolism99
1352011Congenital hypopituitarism due to POU1F1 gene mutationNI-CHUNG LEE ; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.Journal of the Formosan Medical Association55
1362011Mitochondrial 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 Genetics124116
1372010FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndromeLin W.-D.; Chou I.-C.; NI-CHUNG LEE ; Wang C.-H.; Hwu W.-L.; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.Clinical Chemistry and Laboratory Medicine64
1382010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseChien Y.-H.; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; Hwu W.-L.Molecular Genetics and Metabolism22
1392010Enzyme replacement therapy for mucopolysaccharidosis VI-experience in TaiwanLin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P.Journal of Inherited Metabolic Disease1615
1402010Newborn screening for neuropathic lysosomal storage disordersHwu W.-L.; Chien Y.-H.; NI-CHUNG LEE Journal of Inherited Metabolic Disease2019
1412010Complex 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.; Chien Y.-H.; Hwu W.-L.American Journal of Medical Genetics, Part A1414
1422010Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationChen P.W.; Hwu W.L.; Ho M.C.; NI-CHUNG LEE ; Chien Y.H.; Ni Y.H.; Lee P.H.Pediatric Transplantation2928
1432010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningNI-CHUNG LEE ; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.Molecular Genetics and Metabolism6457
1442010Newborn 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 ; Hwu W.-L.; Lin J.-L.; Hung P.-Y.; Niu D.-M.Journal of the Chinese Medical Association1612
1452010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programLabrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; Hwu W.-L.Molecular Genetics and Metabolism8676
1462010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyChang K.-L.; Hwu W.-L.; Yeh H.-Y.; NI-CHUNG LEE ; Chien Y.-H.Blood Cells, Molecules, and Diseases1614
1472009Cryptic 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.; Hwu W.-L.; Ming C.Prenatal Diagnosis44
1482009Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)Hwu W.-L.; Chien Y.-H.; 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 Mutation243230
1492009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiNI-CHUNG LEE ; Huang C.H.; Hwu W.L.; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.Clinical Genetics76
1502009Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCRHung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE ; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.Electrophoresis56
1512009Somatic and germ-line mosaicism in Rubinstein-Taybi syndromeChiang P.-W.; NI-CHUNG LEE ; Chien N.; Hwu W.-L.; Spector E.; Tsai A.C.-H.American Journal of Medical Genetics, Part A3030
1522009Caloric restriction in Alstr?m syndrome prevents hyperinsulinemiaNI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; Hwu W.-L.American Journal of Medical Genetics, Part A1514
1532009Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisationNI-CHUNG LEE ; Dimmock D.; Hwu W.-L.; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.Archives of Disease in Childhood2818
1542009Eye anomalies and neurological manifestations in patients with PAX6 mutations.Chien Y.H.; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; NI-CHUNG LEE Molecular vision2516
1552009Glycogen Storage Disease Type Ib: The First Case in TaiwanHsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; NI-CHUNG LEE ; Chien Y.-H.Pediatrics and Neonatology32
1562009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseChen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; NI-CHUNG LEE ; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.Journal of Pediatrics5039
1572009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentChien Y.-H.; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.Pediatrics157145
1582008Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and CardiomyopathyWang S.-B.; Weng W.-C.; NI-CHUNG LEE ; Hwu W.-L.; Fan P.-C.; Lee W.-T.Pediatrics and Neonatology430
1592008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanChien Y.-H.; NI-CHUNG LEE ; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.Southeast Asian Journal of Tropical Medicine and Public Health80
1602008Long-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 Neurology1813
1612008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaNI-CHUNG LEE ; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L.Pediatric Neurology2118
1622008Screening for pompe disease and fabry diseaseHwu W.-L.; Chien Y.-H.; NI-CHUNG LEE Clinical Therapeutics11
1632008Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening programChien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.Pediatrics188166
1642008Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiencyChen H.-W.; Chen H.-L.; Ni Y.-H.; NI-CHUNG LEE ; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.Journal of Pediatric Gastroenterology and Nutrition189
1652008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewYen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE European Journal of Pediatrics4738
1662007Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.Chien Y.H.; NI-CHUNG LEE ; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.Journal of inherited metabolic disease4236
1672007Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.Hwu W.L.; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE Journal of inherited metabolic disease1313
1682006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyChien Y.-H.; NI-CHUNG LEE ; Peng S.-F.; Hwu W.-L.Pediatric Research6454
1692006Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyNI-CHUNG LEE ; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.Journal of Inherited Metabolic Disease2813
1702006Corneal 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 Association110
1712006Long-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 Metabolism1313
1722006α-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
1732005Intrafamilial 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
1742004Neonatal 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
1752004Contributions 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 Paediatrics42
1762003Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case ReportNI-CHUNG LEE ; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C.Acta Cardiologica Sinica
1772003Megacystis-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