Results 1-399 of 399 (Search time: 0.017 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; Lee, Ni-Chung; Chien, Yin-Hsiu; WUH-LIANG ​​HWU ; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi00
22022Outcome of Later-Onset Pompe Disease Identified Through Newborn ScreeningLee, Ni-Chung; 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 ; Chien, Yin-HsiuThe Journal of pediatrics11
32022Advanced therapeutic strategy for hereditary neuromuscular diseasesWUH-LIANG HWU ; Muramatsu S.-I.; Chien Y.-H.; Byrne B.J.Molecular therapy : the journal of the American Society of Gene Therapy00
42022Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho C.-Y.; Tsai W.-Y.; Lee C.-T.; Liu S.-Y.; Huang S.-Y.; Chien Y.-H.; WUH-LIANG HWU ; Lee N.-C.; Tung Y.-C.Journal of the Formosan Medical Association33
52022Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiencyTai C.-H.; Lee N.-C.; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; WUH-LIANG HWU Molecular Therapy11
62022Comparison of GATK and DeepVariant by trio sequencingLin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; WUH-LIANG ​​HWU ; Lai, FeiPei; Lee, Ni-ChungScientific reports00
72021Rapid 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.; WUH-LIANG HWU ; Lee C.-N.; Tsai I.-J.; Lee N.-C.Frontiers in Genetics00
82021RNA-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.; WUH-LIANG HWU ; Lee N.-C.Scientific Data00
92021Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathyChen C.-L.; Lee C.-N.; Chien Y.-H.; WUH-LIANG HWU ; Chang T.-M.; Lee N.-C.Children00
102021Molecular analysis of vietnamese patients with mucopolysaccharidosis type iCan N.T.B.; Tran D.M.; Bui T.P.; Nguyen K.N.; Nguyen H.H.; Nguyen T.V.; WUH-LIANG HWU ; Tomatsu S.; Vu D.C.Life00
112021A 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 ; Lee N.-C.; Lin C.-Y.; Chien Y.-H.Scientific Reports00
122021Gene therapy in the putamen for curing AADC deficiency and Parkinson's diseaseWUH-LIANG ​​HWU ; Kiening, Karl; Anselm, Irina; Compton, David R; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-IchiEMBO molecular medicine45
132021A 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.; WUH-LIANG HWU ; Lee N.-C.npj Genomic Medicine22
142021STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfaGutschmidt K.; Musumeci O.; D?az-Manera J.; Chien Y.-H.; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; WUH-LIANG HWU ; Toscano A.; Schoser B.Journal of Neurology86
152021Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian casesKubaski F.; Herbst Z.M.; Pereira D.A.A.; Silva C.; Chen C.; WUH-LIANG HWU ; van der Linden H.; Louren?o C.M.; Giugliani R.Molecular Genetics and Metabolism Reports11
162021Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and GaucheromaRamaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU ; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M.Molecular Genetics and Metabolism42
172021CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screeningWeng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; WUH-LIANG HWU ; Lee W.-T.; Lee N.-C.; Chien Y.-H.Genetics in Medicine33
182020Development of newborn screening for pompe diseaseWUH-LIANG HWU ; Chien Y.-H.International Journal of Neonatal Screening00
192020Diversity in heritable disorders of connective tissue at a single centerHsu R.-H.; Chien Y.-H.; WUH-LIANG HWU ; Lee N.-C.Connective Tissue Research00
202020The timely needs for infantile onset pompe disease newborn screening—practice in TaiwanChiang S.-C.; Chien Y.-H.; Chang K.-L.; Lee N.-C.; WUH-LIANG HWU International Journal of Neonatal Screening00
212020Lessons 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.; Lee N.-C.; WUH-LIANG HWU Journal of Nephrology00
222020Modified frameless stereotactic system for intracerebral delivery of viral vector in young childrenTai C.-H.; WUH-LIANG HWU ; Wu R.-M.; Tseng S.-H.Operative Neurosurgery00
232020Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohortChen S.-J.; Lee B.-C.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU ; Lin C.-H.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics00
242020Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease miceLee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; Chien Y.-H.Scientific Reports00
252020Cardiac manifestations and gene mutations of patients with RASopathies in TaiwanLee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; Lee N.-C.; 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
262020De 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.; WUH-LIANG HWU ; Lin C.-L.; Kwok P.-Y.; Lee N.-C.Human Mutation22
272020REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sampleLee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; WUH-LIANG HWU ; Lee P.-L.Journal of the Formosan Medical Association76
282020Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical centerLiu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU ; Tsai W.-Y.Journal of the Formosan Medical Association10
292020Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.Orphanet Journal of Rare Diseases119
302020Dietary intake and nutritional status of patients with phenylketonuria in TaiwanWeng H.-L.; Yang F.-J.; Chen P.-R.; WUH-LIANG HWU ; Lee N.-C.; Chien Y.-H.Scientific Reports21
312020Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down SyndromeFang W.-Q.; WUH-LIANG HWU ; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.ACS Chemical Neuroscience34
322020Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newbornsChien Y.-H.; Lee N.-C.; 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 Diseases1918
332020Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencingHwa H.-L.; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.; Li S.-F.; WUH-LIANG HWU ; Su C.-W.Legal Medicine56
342020Earlier 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.; Lee N.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism Reports911
352020Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in TaiwanChang H.-Y.; WUH-LIANG HWU ; Chen C.-H.; Hou C.-Y.; Cheng W.Frontiers in Pediatrics128
362020Complications of erythropoietin in navigated brain gene therapy: A case reportTseng S.-H.; Tai C.-H.; WUH-LIANG HWU Interdisciplinary Neurosurgery: Advanced Techniques and Case Management11
372020Towards a reference genome that captures global genetic diversityWong K.H.Y.; Ma W.; Wei C.-Y.; Yeh E.-C.; Lin W.-J.; Wang E.H.F.; Su J.-P.; Hsieh F.-J.; Kao H.-J.; Chen H.-H.; Chow S.K.; Young E.; Chu C.; Poon A.; Yang C.-F.; Lin D.-S.; Hu Y.-F.; Wu J.-Y.; Lee N.-C.; WUH-LIANG HWU ; Boffelli D.; Martin D.; Xiao M.; Kwok P.-Y.Nature Communications1012
382020Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infantChu S.-Y.; Chien C.-C.; WUH-LIANG HWU ; Wang P.-J.; Chien Y.-H.Blood Cells, Molecules, and Diseases44
392020Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesKuo C.-W.; WUH-LIANG HWU ; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; Lee N.-C.Molecular Genetics and Genomic Medicine33
402019Fabry 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.; WUH-LIANG HWU ; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.Genetics in Medicine00
412019High incidence of co-existing GLA variants and stroke susceptibilityChien Y.-H.; WUH-LIANG HWU European Journal of Neurology00
422019Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M.Molecular Genetics and Metabolism2625
432019A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanLee N.-C.; Chien Y.-H.; WUH-LIANG HWU American Journal of Medical Genetics, Part C: Seminars in Medical Genetics65
442019Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseasesPosset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU ; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortiumJournal of Inherited Metabolic Disease1717
452019Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegsHsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C.Pediatrics and Neonatology22
462019Reply 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.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU ; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America77
472019Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?Wu E.-T.; WUH-LIANG HWU ; 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.; Lee N.-C.Pediatric Critical Care Medicine1313
482019Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective StudyWhyte M.P.; Leung E.; Wilcox W.R.; Liese J.; Argente J.; Martos-Moreno G.?.; Reeves A.; Fujita K.P.; Moseley S.; Hofmann C.; Beck M.; DiMeglio L.; WUH-LIANG HWU ; Simm P.; Simmons J.; Steelman J.; Steiner R.D.; Superti-Furga A.; Study 011-10 InvestigatorsJournal of Pediatrics2118
492019Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVALin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P.Pediatrics and Neonatology76
502019Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE studyDe Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU ; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Butterfield R.J.; Topaloglu H.; Ben-Omran T.; Sansone V.A.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study GroupNeuromuscular Disorders233220
512019Decreased 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 ; Chien Y.-H.; Lee N.-C.; 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
522019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; WUH-LIANG HWU Annals of Neurology1011
532019Electrical 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.; WUH-LIANG HWU ; Liou H.-H.; Lee N.-C.Frontiers in Cellular Neuroscience22
542019Methylmalonic 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.; WUH-LIANG HWU ; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.Orphanet Journal of Rare Diseases1615
552019Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypesSimon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S.; WUH-LIANG HWU ; Taft R.J.; Benke P.J.; Abdenur J.E.Molecular Genetics and Metabolism2120
562019Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationHsu R.-H.; Chien Y.-H.; WUH-LIANG HWU ; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.Orphanet Journal of Rare Diseases99
572019Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese populationChen S.-J.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU ; Lin C.-H.Brain and Behavior33
582019Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidosesLin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P.Diagnostics88
592019Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiencyYu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU ; Chiang B.-L.Journal of Microbiology, Immunology and Infection54
602019Congenital 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.; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; Lee N.-C.Journal of the Formosan Medical Association86
612019Primary 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 ; 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.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.npj Genomic Medicine1515
622019Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidosesLin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-P.Molecular Genetics and Genomic Medicine69
632019Clinical features of Pompe disease with motor neuronopathyTsai L.-K.; WUH-LIANG HWU ; Lee N.-C.; Huang P.-H.; Chien Y.-H.Neuromuscular Disorders42
642019Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrumLee C.-T.; Tung Y.-C.; WUH-LIANG HWU ; 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.; Lee N.-C.American Journal of Medical Genetics, Part A44
652019Functional independence of Taiwanese patients with mucopolysaccharidosesLee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU ; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P.Molecular Genetics and Genomic Medicine44
662019Evaluation 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 ; Chien Y.-H.; Lee N.-C.; 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
672018Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; Chien Y.-H.; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU ; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortiumJournal of Inherited Metabolic Disease00
682018Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU ; Fang J.-Y.European Journal of Neurology54
692018A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceLee N.-C.; WUH-LIANG HWU ; 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
702018Natural history of aromatic L-amino acid decarboxylase deficiency in TaiwanWUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.; Li M.-H.JIMD Reports190
712018Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Arnoux J.-B.; Bari? I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; Laet C.; Lindner M.; Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortiumJournal of Inherited Metabolic Disease00
722018Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Chien Y.-H.; Lin J.-L.; Lin S.-P.Orphanet Journal of Rare Diseases67
732018SHOX deficiency in short Taiwanese children: A single-center experienceTung Y.-C.; Lee N.-C.; WUH-LIANG HWU ; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.Journal of the Formosan Medical Association22
742018Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year periodLin H.-Y.; Chuang C.-K.; Lee C.-L.; Tu R.-Y.; Lo Y.-T.; Chiu P.C.; Niu D.-M.; Fang Y.-Y.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Chang T.-M.; Lin S.-P.American Journal of Medical Genetics, Part A2019
752018Biparental inheritance of mitochondrial DNA in humansLuo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU ; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America198180
762018Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in TaiwanTung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; Yang W.-S.; WUH-LIANG HWU ; Chen P.-L.; Tsai W.-Y.Pediatric Diabetes32
772018Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical centerLin C.-J.; Chien Y.-H.; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU ; Wu C.-J.Kidney and Blood Pressure Research1312
782018Management of Leigh syndrome: Current status and new insightsChen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU ; Lian Q.Clinical Genetics99
792018Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screeningLiu S.-Y.; Lee C.-T.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU ; Tsai W.-Y.Journal of the Formosan Medical Association78
802018Performance 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.; Lee N.-C.; Chiou L.-Y.; Chien Y.-H.International Journal of Neonatal Screening810
812017Newborn screening for severe combined immunodeficiency in TaiwanChien Y.-H.; Yu H.-H.; Lee N.-C.; 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.; WUH-LIANG HWU International Journal of Neonatal Screening300
822017Gene therapy with modified U1 small nuclear RNAWUH-LIANG HWU ; Lee Y.-M.; Lee N.-C.Expert Review of Endocrinology and Metabolism11
832017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialChien Y.-H.; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU The Lancet Child and Adolescent Health6265
842017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseZeng Y.-T.; WUH-LIANG HWU ; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; Chien Y.-H.European Journal of Paediatric Neurology1111
852017Management of confirmed newborn-screened patients with pompe disease across the disease spectrumKronn D.F.; Day-Salvatore D.; WUH-LIANG HWU ; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S.Pediatrics2723
862017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseChien Y.-H.; WUH-LIANG HWU ; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.Molecular Genetics and Metabolism Reports87
872017The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe diseaseBurton B.K.; Kronn D.F.; WUH-LIANG HWU ; Kishnani P.S.Pediatrics2113
882017Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiencyMcGovern M.M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Eugen Mengel K.; Mistry P.K.; Schuchman E.H.; Wasserstein M.P.Genetics in Medicine4041
892017Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplementKishnani P.S.; WUH-LIANG HWU Pediatrics96
902017Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's diseaseLee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; WUH-LIANG HWU ; Chiu M.-J.Frontiers in Aging Neuroscience4033
912017A Review of Biomarkers for Alzheimer’s Disease in Down SyndromeLee N.-C.; Chien Y.-H.; WUH-LIANG HWU Neurology and Therapy1310
922017Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10Cheng W.; Huang P.-C.; Chao H.-M.; Jeng Y.-M.; Hsu H.-C.; Pan H.-W.; WUH-LIANG HWU ; Lee Y.-M.Oncotarget56
932017Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry diseaseChiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU ; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.Molecular Genetics and Metabolism66
942017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningChien Y.-H.; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU Journal of Pediatrics7870
952016Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiencyCheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; Chien Y.-H.; WUH-LIANG HWU European Journal of Medicinal Chemistry1212
962016Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case seriesLin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU ; Ke Y.-Y.; Lin S.-P.Molecular Genetics and Metabolism Reports1617
972016Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersPosset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.Journal of Inherited Metabolic Disease4539
982016Long-term outcome for Down syndrome patients with hematopoietic disordersLi M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; WUH-LIANG HWU ; Lin D.-T.Journal of the Formosan Medical Association43
992016Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VILin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P.Molecular Genetics and Metabolism2627
10020163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyChien Y.-H.; Chen P.-W.; Lee N.-C.; 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 Metabolism3230
1012016Advances in newborn screening for Pompe disease and resulting clinical outcomesChien Y.-H.; WUH-LIANG HWU ; Lee N.-C.Expert Opinion on Orphan Drugs00
1022016Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene AymeLin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.Orphanet Journal of Rare Diseases1620
1032016Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase geneLee N.-C.; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU Human Molecular Genetics1615
1042016Slow, 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.; WUH-LIANG HWU ; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.Orphanet Journal of Rare Diseases1719
1052016Integrated care for Down syndromeLee N.-C.; Chien Y.-H.; WUH-LIANG HWU Congenital Anomalies11
1062016Hypothermia improves disease manifestations in SMA mice via SMN augmentationTsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU Human Molecular Genetics44
1072015Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screeningChien Y.-H.; Goldstein J.L.; WUH-LIANG HWU ; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P.JIMD Reports240
1082015Congenital malformations in newborns - A challenge unmet for decadesLee N.-C.; Chien Y.-H.; WUH-LIANG HWU Pediatrics and Neonatology11
1092015Incidence of severe combined immunodeficiency through newborn screening in a Chinese populationChien Y.-H.; Chiang S.-C.; Chang K.-L.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association4230
1102015Pincer nail deformity as the main manifestation of Clouston syndromeHu Y.-H.; Lin Y.-C.; WUH-LIANG HWU ; Lee Y.-M.British Journal of Dermatology44
1112015Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birthChien Y.-H.; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; WUH-LIANG HWU Journal of Pediatrics7873
1122015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyLee N.-C.; 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.; WUH-LIANG HWU Molecular Therapy1715
1132015Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutationHsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; WUH-LIANG HWU ; 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
1142015Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotesChien Y.-H.; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU ; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.Orphanet Journal of Rare Diseases2724
1152014Parental discussion of G6PD deficiency and child health: Implications for clinical practiceGuan Y.; Roter D.L.; Huang A.; Erby L.A.H.; Chien Y.-H.; WUH-LIANG HWU Archives of Disease in Childhood00
1162014Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotypeLee D.-H.; Qiu W.-J.; Lee J.; Chien Y.-H.; WUH-LIANG HWU JIMD Reports240
1172014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseChien Y.-H.; Lee N.-C.; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Muscle and Nerve55
1182014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesWUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry55
1192014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorLee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU Human Gene Therapy1313
1202014Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVALin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P.Orphanet Journal of Rare Diseases2323
1212014Mutant EXT1 in Taiwanese patients with multiple hereditary exostosesLin W.-D.; WUH-LIANG HWU ; Wang C.-H.; Tsai F.-J.BioMedicine (Netherlands)10
1222014A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapyGiugliani R.; WUH-LIANG HWU ; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A.Genetics in Medicine3128
1232014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismTsai I.-J.; WUH-LIANG HWU ; Huang S.-C.; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.Pediatric Nephrology1313
1242014Cyclic 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.; WUH-LIANG HWU ; Lee N.-C.Pediatrics and Neonatology55
1252014Outcome of early-treated type III Gaucher disease patientsLee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU Blood Cells, Molecules, and Diseases1615
1262014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsChen P.-W.; Lee N.-C.; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU Clinica Chimica Acta2523
1272014The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patientsFeeney E.J.; Austin S.; Chien Y.-H.; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU ; Ralston E.; Kishnani P.S.; Raben N.Acta Neuropathologica Communications4041
1282014Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA miceTsai L.-K.; Chen C.-L.; Ting C.-H.; Lin-Chao S.; WUH-LIANG HWU ; Dodge J.C.; Passini M.A.; Cheng S.H.Molecular Therapy3435
1292013The Ethical Issues and National Policy in Population-based Genetic ScreeningWUH-LIANG ​​HWU ; Daniel Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien台灣醫學0
1302013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsWUH-LIANG HWU ; Lee N.-C.; 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
1312013Promising 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.; WUH-LIANG HWU ; Lee N.-C.Metabolic Brain Disease3022
1322013Fatty acid oxidation disorders in a chinese population in TaiwanChien Y.-H.; Lee N.-C.; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU JIMD Reports230
1332013Carnitine 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.; WUH-LIANG HWU ; Lee N.-C.Human Mutation1211
1342013Analysis of lyso-globotriaosylsphingosine in dried blood spotsJohnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; Chien Y.-H.; Mar?di L.; WUH-LIANG HWU ; Bodamer O.A.Annals of Laboratory Medicine2323
1352013Web-based newborn screening system for metabolic diseases: Machine learning versus cliniciansChen W.-H.; Hsieh S.-L.; Hsu K.-P.; Chen H.-P.; Su X.-Y.; Tseng Y.-J.; Chien Y.-H.; WUH-LIANG HWU ; Lai F.Journal of Medical Internet Research1210
1362013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyLee N.-C.; 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.; WUH-LIANG HWU Neurobiology of Disease2624
1372013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CChien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease2932
1382013AADC deficiency. Occurring in humans, modeled in rodents.WUH-LIANG HWU ; Lee N.-C.; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology120
1392013Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe DiseaseChien Y.-H.; Han D.-S.; WUH-LIANG HWU ; Thurberg B.L.; Yang W.-S.PLoS ONE1211
1402013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originWang J.; Cui H.; Lee N.-C.; WUH-LIANG HWU ; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.Genetics in Medicine5844
1412013Erratum: 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.; WUH-LIANG HWU ; Niu D.-M.; Lee N.-C.; Lin S.-P.Journal of Inherited Metabolic Disease01
1422013Diagnosing mucopolysaccharidosis IVAWood T.C.; Harvey K.; Beck M.; Burin M.G.; Chien Y.-H.; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.Journal of Inherited Metabolic Disease6468
1432013Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutationChien Y.-H.; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease1415
1442013Pompe disease: Early diagnosis and early treatment make a differenceChien Y.-H.; WUH-LIANG HWU ; Lee N.-C.Pediatrics and Neonatology10788
1452013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionChien Y.-H.; Shieh Y.-D.; Yang C.-Y.; Lee N.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism2320
1462013Newborn 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 ; Lee N.-C.; Chien Y.-H.BMC Medical Genetics1717
1472012Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU ; Chu S.-Y.Tzu Chi Medical Journal00
1482012Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identificationHuang H.-P.; Chen P.-H.; WUH-LIANG HWU ; Chuang C.-Y.; Chien Y.-H.; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.Human Molecular Genetics0
1492012Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancerKuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; WUH-LIANG HWU ; Chang K.-J.Journal of Human Genetics1818
1502012An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic deliveryLee N.-C.; 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.; WUH-LIANG HWU Genetic Vaccines and Therapy30
1512012Newborn screening for phenylketonuria: Machine learning vs cliniciansChen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; Chien Y.-H.; WUH-LIANG HWU ; Lai F.Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 201220
1522012IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA miceTsai L.-K.; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; WUH-LIANG HWU ; Cheng S.H.; Passini M.A.Neurobiology of Disease3937
1532012Fabry 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.; Lee N.C.; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU Molecular medicine (Cambridge, Mass.)5952
1542012Late 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.; Lee N.-C.; WUH-LIANG HWU ; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.Molecular Genetics and Metabolism2622
1552012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseChien Y.-H.; Lee N.-C.; Huang P.-H.; Lee W.-T.; Thurberg B.L.; WUH-LIANG HWU Pediatric Neurology1815
1562012Enhanced interpretation of newborn screening results without analyte cutoff valuesMarquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Bodamer O.; Dy B.; Torres J.; Zori R.; Cheillan D.; Vianey-Saban C.; Ludvigson D.; Stembridge A.; Bonham J.; Downing M.; Dotsikas Y.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; Chien Y.-H.; WUH-LIANG HWU ; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Mei B.; Hoffman G.L.Genetics in Medicine9085
1572012Expert recommendations for the laboratory diagnosis of MPS VIWood T.; Bodamer O.A.; Burin M.G.; D'Almeida V.; Fietz M.; Giugliani R.; Hawley S.M.; Hendriksz C.J.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Mendelsohn N.J.; Miller N.; Pasquali M.; Schenone A.; Schoonderwoerd K.; Winchester B.; Harmatz P.Molecular Genetics and Metabolism2930
1582012Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesisYang Y.-S.; Ma G.-C.; Shih J.-C.; Chen C.-P.; Chou C.-H.; Yeh K.-T.; Kuo S.-J.; Chen T.-H.; WUH-LIANG HWU ; Lee T.-H.; Chen M.Ultrasound in Obstetrics and Gynecology3226
1592012Diagnosis 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.; WUH-LIANG HWU ; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.Journal of Pediatrics1211
1602012Gene therapy for aromatic L-amino acid decarboxylase deficiencyWUH-LIANG HWU ; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.Science Translational Medicine149142
1612012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; WUH-LIANG HWU ; Lee N.-C.; Hsu L.-W.; Chien Y.-H.Molecular Genetics and Metabolism5351
1622012A 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.; WUH-LIANG HWU ; Lee N.-C.Pediatrics and Neonatology109
1632012Integrating human genome database into electronic health record with sequence alignment and compression mechanismChen W.-H.; Lu Y.-W.; Lai F.; Chien Y.-H.; WUH-LIANG HWU Journal of Medical Systems54
1642012Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothoraxYeang C.-H.; Ma G.-C.; Shih J.-C.; Yang Y.-S.; Chen C.-P.; Chang S.-P.; Wu S.-H.; Liu C.-S.; Kuo S.-J.; Chou H.-C.; WUH-LIANG HWU ; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M.PLoS ONE55
1652012Association 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.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C.Journal of Child Neurology109
1662012PSORS2 is due to mutations in CARD14Jordan C.T.; Cao L.; Roberson E.D.O.; Pierson K.C.; Yang C.-F.; Joyce C.E.; Ryan C.; Duan S.; Helms C.A.; Liu Y.; Chen Y.; McBride A.A.; WUH-LIANG HWU ; Wu J.-Y.; Chen Y.-T.; Menter A.; Goldbach-Mansky R.; Lowes M.A.; Bowcock A.M.American Journal of Human Genetics285267
1672012Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndromeWang S.-H.; Wu C.-C.; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU ; Yu I.-S.; Hsu C.-J.Laryngoscope2015
1682012Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific regionWUH-LIANG HWU ; Okuyama T.; But W.M.; Estrada S.; Gu X.; Hui J.; Kosuga M.; Lin S.-P.; Ngu L.-H.; Shi H.; Tanaka A.; Thong M.-K.; Wattanasirichaigoon D.; Wasant P.; McGill J.Molecular Genetics and Metabolism75
1692011Cerebral diffusion tensor images in infants and neonates with infantile onset pompe diseasePeng S.S.-F.; Chien Y.-H.; WUH-LIANG HWU ; Liu H.-M.; Tseng I.W.-Y.Biomedical Engineering - Applications, Basis and Communications00
1702011A reliable password-based user authentication scheme for web-based human genome database systemChen W.-H.; Wu Z.-Y.; Lai F.; Chien Y.-H.; WUH-LIANG HWU IEEE International Conference on Digital Ecosystems and Technologies00
1712011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningChien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU Journal of Pediatrics7865
1722011Congenital hypopituitarism due to POU1F1 gene mutationLee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association55
1732011Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemiaWei S.-H.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU ; Lee W.-T.Journal of Child Neurology1011
1742011Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative projectMcHugh D.M.S.; Cameron C.A.; Abdenur J.E.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Caggana M.; Caldwell S.G.; Camilot M.; Campbell C.; Carducci C.; Cariappa R.; Carlisle C.; Caruso U.; Cassanello M.; Castilla A.M.; Ramos D.E.C.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; Chien Y.-H.; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Dy B.; Dymerski M.; Rueda I.; Elvers B.; Eaton R.; Eckerd B.M.; El Mougy F.; Eroh S.; Espada M.; Evans C.; Fawbush S.; Fijolek K.F.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Hassan F.A.; He M.; Hietala A.; Himstedt L.; Hoffman G.L.; Hoffman W.; Hoggatt P.; Hopkins P.V.; Hougaard D.M.; Hughes K.; Hunt P.R.; WUH-LIANG HWU ; Hynes J.; Ibarra-Gonz?lez I.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Lavochkin M.; Lee S.-Y.; Lehotay D.C.; Lemes A.; Lepage J.; Lesko B.; Lewis B.; Lim C.; Linard S.; Lindner M.; Lloyd-Puryear M.A.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Nikoloudis D.; Norgaard-Pedersen B.; Oglesbee D.; Oltarzewski M.; Ombrone D.; Ojodu J.; Papakonstantinou V.; Reoyo S.P.; Park H.-D.; Pasquali M.; Pasquini E.; Patel P.; Pass K.A.; Peterson C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Saban C.; Sahai I.; Garc?a-Blanco M.I.S.; Santiago-Borrero P.; Schenone A.; Schoos R.; Schweitzer B.; Scott P.; Seashore M.R.; Seeterlin M.A.; Sesser D.E.; Sevier D.W.; Shone S.M.; Sinclair G.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Turner K.; Tzanakos N.; Valiente A.G.; Vallance H.; Vela-Amieva M.; Vilarinho L.; Von D?beln U.; Vincent M.-F.; Vorster B.C.; Watson M.S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M.Genetics in Medicine246236
1752011Preimplantation and prenatal genetic diagnosis of aromatic L-amino aciddecarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reactionKuo S.-J.; Ma G.-C.; Chang S.-P.; Wu H.-H.; Chen C.-P.; Chang T.-M.; Lin W.-H.; Wu S.-H.; Lee M.-H.; WUH-LIANG HWU ; Chen M.Taiwanese Journal of Obstetrics and Gynecology910
1762011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyChen C.-A.; Chien Y.-H.; WUH-LIANG HWU ; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.Journal of Cardiac Failure2322
1772011The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectivesReuser A.J.; Verheijen F.W.; Bali D.; van Diggelen O.P.; Germain D.P.; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Olivova P.; Piraud M.; Wuyts B.; Zhang K.; Keutzer J.Molecular Genetics and Metabolism6156
1782011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseChien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; WUH-LIANG HWU Molecular Genetics and Metabolism99
1792011Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU ; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.Immunobiology4235
1802011Rapid progressive course of later-onset Pompe disease in Chinese patientsYang C.-C.; Chien Y.-H.; Lee N.-C.; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU Molecular Genetics and Metabolism3535
1812010Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic ReviewWUH-LIANG ​​HWU ; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao台灣醫學 0
1822010Newborn ScreeningWUH-LIANG ​​HWU ; Y. H. Chien; N. C. Lee台灣醫學 0
1832010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningLee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism6456
1842010Ethical Issues in Genetic Testing and the Ethical Guidelines for Genetic CounsellingWUH-LIANG ​​HWU ; Daniel Fu-Chang Tsai; Shang-Ju Yang; Chih-Ning Chang; Chih-Chao Yang台灣醫學 0
1852010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programLabrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; WUH-LIANG HWU Molecular Genetics and Metabolism8676
1862010Newborn 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.; Lee N.-C.; WUH-LIANG HWU ; Lin J.-L.; Hung P.-Y.; Niu D.-M.Journal of the Chinese Medical Association1612
1872010Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometryHsu W.-Y.; Lin W.-D.; WUH-LIANG HWU ; Lai C.-C.; Tsai F.-J.Analytical Chemistry2524
1882010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseChien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU Molecular Genetics and Metabolism22
1892010Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemiaFern?ndez-Irigoyen J.; Santamar?a E.; Chien Y.-H.; WUH-LIANG HWU ; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.Molecular Genetics and Metabolism2727
1902010How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Auray-Blais C.; Ntwari A.; Clarke J.T.R.; Warnock D.G.; Oliveira J.P.; Young S.P.; Millington D.S.; Bichet D.G.; Sirrs S.; West M.L.; Casey R.; WUH-LIANG HWU ; Keutzer J.M.; Zhang X.K.; Gagnon R.Clinica Chimica Acta8683
1912010Newborn screening for neuropathic lysosomal storage disordersWUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.Journal of Inherited Metabolic Disease2019
1922010FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndromeLin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU ; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.Clinical Chemistry and Laboratory Medicine64
1932010Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationChen P.W.; WUH-LIANG HWU ; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H.Pediatric Transplantation2928
1942010Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapyRaben N.; Ralston E.; Chien Y.-H.; Baum R.; Schreiner C.; WUH-LIANG HWU ; Zaal K.J.M.; Plotz P.H.Molecular Genetics and Metabolism5752
1952010Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometryDajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.Clinica Chimica Acta4641
1962010Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndromeWu C.-C.; Lu Y.-C.; Chen P.-J.; Yeh P.-L.; Su Y.-N.; WUH-LIANG HWU ; Hsu C.-J.Audiology and Neurotology5453
1972010Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpointsLee N.-C.; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; WUH-LIANG HWU American Journal of Medical Genetics, Part A1414
1982010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyChang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; Lee N.-C.; Chien Y.-H.Blood Cells, Molecules, and Diseases1614
1992010Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiencyBrun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU ; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N.Neurology143132
2002010Nationwide survey of extended newborn screening by tandem mass spectrometry in TaiwanNiu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.Journal of Inherited Metabolic Disease117103
2012010Enzyme 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.; WUH-LIANG HWU ; Niu D.-M.; Lee N.-C.; Lin S.-P.Journal of Inherited Metabolic Disease1615
2022010A validated disease severity scoring system for adults with type 1 Gaucher diseaseWeinreb N.J.; Cappellini M.D.; Cox T.M.; Giannini E.H.; Grabowski G.A.; WUH-LIANG HWU ; Mankin H.; Martins A.M.; Sawyer C.; Vom Dahl S.; Yeh M.S.; Zimran A.Genetics in Medicine4947
2032009Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case reportLin L.-C.; WUH-LIANG HWU ; Yang R.-C.Pediatrics International00
2042009Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.Chien Y.H.; WUH-LIANG HWU Human genetics30
2052009Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairmentWu C.-C.; Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J.Laryngoscope1414
2062009X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed MalesChen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; WUH-LIANG HWU Pediatrics and Neonatology44
2072009Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyWraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU ; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F.Molecular Genetics and Metabolism7669
2082009Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor bandingLee N.-C.; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU ; Ming C.Prenatal Diagnosis44
2092009Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular AtrophyTsai L.-K.; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU ; Li H.Journal of Pediatrics76
2102009Somatic and germ-line mosaicism in Rubinstein-Taybi syndromeChiang P.-W.; Lee N.-C.; Chien N.; WUH-LIANG HWU ; Spector E.; Tsai A.C.-H.American Journal of Medical Genetics, Part A3030
2112009Schizencephaly in LEOPARD SyndromeLiang J.-S.; Chien Y.-H.; WUH-LIANG HWU ; Yeh S.-J.; Peng S.-F.Pediatric Neurology44
2122009Eye anomalies and neurological manifestations in patients with PAX6 mutations.Chien Y.H.; Huang H.P.; WUH-LIANG HWU ; Chien Y.H.; Chang T.C.; Lee N.C.Molecular vision2516
2132009Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort studyPineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU ; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C.Molecular Genetics and Metabolism146131
2142009Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studiesKraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; Chien Y.-H.; WUH-LIANG HWU ; Hegele R.A.; Mudd S.H.Molecular Genetics and Metabolism4237
2152009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseChen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU ; Wang J.-K.; Wu M.-H.Journal of Pediatrics5039
2162009Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU ; Lin J.-L.American Journal of Medical Genetics, Part A146133
2172009Caloric restriction in Alstr?m syndrome prevents hyperinsulinemiaLee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; WUH-LIANG HWU American Journal of Medical Genetics, Part A1514
2182009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentChien Y.-H.; Lee N.-C.; 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.; WUH-LIANG HWU Pediatrics157145
2192009Newborn 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 ; Chien Y.-H.; Lee N.-C.; 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
2202009Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisationLee N.-C.; Dimmock D.; WUH-LIANG HWU ; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.Archives of Disease in Childhood2818
2212009A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndromeLai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU ; Lu C.-S.European Journal of Neurology2724
2222009Glycogen Storage Disease Type Ib: The First Case in TaiwanHsiao H.-J.; Chang H.-H.; WUH-LIANG HWU ; Lam C.-W.; Lee N.-C.; Chien Y.-H.Pediatrics and Neonatology32
2232009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiLee N.C.; Huang C.H.; WUH-LIANG HWU ; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.Clinical Genetics76
2242008Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage DisordersBodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU ; M?hl A.Clinical Therapeutics00
2252008Myopathy in Gaucher diseaseTsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease30
2262008Gene symbol: GLA. Disease: Fabry disease.Lin W.D.; WUH-LIANG HWU ; Liu S.C.; Tsai F.J.Human genetics10
2272008[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU ; Zhang C.H.; Kobayashi K.Zhonghua er ke za zhi. Chinese journal of pediatrics100
2282008Reflection on the Practice and Ethics of Genetic Testing and Counseling in TaiwanFu-Chang Tsai; WUH-LIANG ​​HWU ; Chin-Ning Chang; Chih-Chao Yang醫學教育 0
2292008Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescenceRalston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU ; Chien Y.-H.; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.Journal of Structural Biology4444
2302008Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patientsLin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J.Clinica Chimica Acta2320
2312008Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I proteinChiou Y.-W.; WUH-LIANG HWU ; Lee Y.-M.Biochimica et Biophysica Acta - Molecular Basis of Disease22
2322008Screening for pompe disease and fabry diseaseWUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.Clinical Therapeutics11
2332008Web Services based newborn screening system with Support Vector MachinesHsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; WUH-LIANG HWU 5th International Conference on Information Technology and Applications, ICITA 20081
2342008Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type IIWan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU ; Yang C.-C.; Tsai C.-H.; Tsai F.-J.Journal of Neurology4341
2352008Early detection of glutaric aciduria type I by newborn screening in TaiwanHsieh C.-T.; WUH-LIANG HWU ; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; Chien Y.-H.Journal of the Formosan Medical Association2014
2362008Gene symbol: GCDH. Disease: Glutaricacidaemia I.Lin W.D.; WUH-LIANG HWU ; Wang C.H.; Chen C.P.; Tsai F.J.Human genetics10
2372008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanChien Y.-H.; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU Southeast Asian Journal of Tropical Medicine and Public Health80
2382008Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe diseaseHuang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU ; Wang J.-K.; Wu M.-H.Paediatric Anaesthesia56
2392008Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoringCox T.M.; Aerts J.M.F.G.; Belmatoug N.; Cappellini M.D.; Dahl S.; Goldblatt J.; Grabowski G.A.; Hollak C.E.M.; WUH-LIANG HWU ; Maas M.; Martins A.M.; Mistry P.K.; Pastores G.M.; Tylki-Szymanska A.; Yee J.; Weinreb N.Journal of Inherited Metabolic Disease10790
2402008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaLee N.-C.; 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.; WUH-LIANG HWU Pediatric Neurology2119
2412008Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameterHuang S.-C.; Wu E.-T.; Chiu S.; WUH-LIANG HWU ; Wu M.-H.; Wang S.-S.Journal of Thoracic and Cardiovascular Surgery44
2422008Alglucosidase Alfa (Myozyme?) in Infants and Children with Rapidly Progressive Pompe DiseaseCorzo D.; Byrne B.; WUH-LIANG HWU ; Leslie N.; Mandel H.; Nicolino M.Clinical Therapeutics00
2432008Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and CardiomyopathyWang S.-B.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU ; Fan P.-C.; Lee W.-T.Pediatrics and Neonatology430
2442008Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver diseaseChen H.-L.; Wang R.; Chen H.-L.; WUH-LIANG HWU ; Jeng Y.-M.; Chang M.-H.; Ling V.Journal of Biomedical Science66
2452008A promoter sequence variant of ZNF750 is linked with familial psoriasisYang C.-F.; WUH-LIANG HWU ; Yang L.-C.; Chung W.-H.; Chien Y.-H.; Hung C.-F.; Chen H.-C.; Tsai P.-J.; Fann C.S.J.; Liao F.; Chen Y.-T.Journal of Investigative Dermatology2322
2462008Fibrous dysplasia in a child with mitochondrial A8344G mutationChen S.-T.; Fan P.-C.; WUH-LIANG HWU ; Wu M.-H.Journal of Child Neurology66
2472008Chubby 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.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU ; Huang Y.-T.; Chiu P.-C.; Chang M.-H.Journal of Pediatric Gastroenterology and Nutrition189
2482008Early 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.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU Pediatrics188166
2492008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewYen T.-Y.; WUH-LIANG HWU ; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.European Journal of Pediatrics4738
2502007Russell-Silver Syndrome與印記基因關連性探討李美慧; WUH-LIANG HWU ; 呂旭峰; 陳明當代醫學0
2512007The genetics of atopic dermatitisChien Y.-H.; WUH-LIANG HWU ; Chiang B.-L.Clinical Reviews in Allergy and Immunology2723
2522007Valproic acid treatment in six patients with spinal muscular atrophy [5]Tsai L.-K.; Yang C.-C.; WUH-LIANG HWU ; Li H.European Journal of Neurology4240
2532007Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohortWang C.-C.; WUH-LIANG HWU ; Wu E.-T.; Lu F.; Wang J.-K.; Wu M.-H.Acta Paediatrica, International Journal of Paediatrics2420
2542007Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonismLin C.-H.; WUH-LIANG HWU ; Chiang S.-C.; Tai C.-H.; Wu R.-M.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics87
2552007A review of treatment of pompe disease in infantsChien Y.-H.; WUH-LIANG HWU Biologics: Targets and Therapy13
2562007Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; WUH-LIANG HWU Journal of inherited metabolic disease4236
2572007Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.WUH-LIANG HWU ; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; Lee N.C.Journal of inherited metabolic disease1313
2582007The design and implementation of a next generation information system for newborn screeningTu C.-M.; Tang M.-Y.; Chang H.-Y.; WUH-LIANG HWU ; Chien Y.-H.; Lai F.HEALTHCOM 2007: Ubiquitous Health in Aging Societies - 2007 9th International Conference on e-Health Networking, Application and Services60
2592007Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.Lin W.D.; WUH-LIANG HWU ; Liu S.C.; Chen C.P.; Tsai F.J.Human genetics30
2602007Slipped capital femoral epiphysis as a complication of growth hormone therapy.Wang S.Y.; Tung Y.C.; Tsai W.Y.; Chien Y.H.; Lee J.S.; WUH-LIANG HWU Journal of the Formosan Medical Association = Taiwan yi zhi55
2612007Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplificationHuang C.-H.; Chang Y.-Y.; Chen C.-H.; Kuo Y.-S.; WUH-LIANG HWU ; Gerdes T.; Ko T.-M.Genetics in Medicine5850
2622007Identification and management of cardiac perforation from a double lumen catheter in an infant [6]Wang C.-C.; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU ; Ko W.-J.; Huang S.-C.Paediatric Anaesthesia32
2632007Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)Chen C.-P.; Lin S.-P.; Tzen C.-Y.; WUH-LIANG HWU ; Chern S.-R.; Chuang C.-K.; Chiang S.-S.; Wang W.Genetic Counseling86
2642007Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendationsKemper A.R.; WUH-LIANG HWU ; Lloyd-Puryear M.; Kishnani P.S.Pediatrics5040
2652007Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe diseaseKishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU ; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; Chien Y.H.; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E.Neurology605548
2662006遺傳因素造成胎兒在子宮內生長遲緩之要因與結果分析呂旭峰; WUH-LIANG HWU ; 李美慧當代醫學0
2672006Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotypeChen M.; WUH-LIANG HWU ; Kuo S.-J.; Chen C.-P.; Yin P.-L.; Chang S.-P.; Lee D.-J.; Chen T.-H.; Wang B.-T.; Lin C.-C.Ultrasound in Obstetrics and Gynecology1514
2682006Establishing a standardized therapeutic testing protocol for spinal muscular atrophyTsai L.-K.; Tsai M.-S.; Lin T.-B.; WUH-LIANG HWU ; Li H.Neurobiology of Disease5251
2692006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyChien Y.-H.; Lee N.-C.; Peng S.-F.; WUH-LIANG HWU Pediatric Research6454
2702006Tandem mass neonatal screening in Taiwan - Report from one centerHuang H.-P.; Chu K.-L.; Chien Y.-H.; Wei M.-L.; Wu S.-T.; Wang S.-F.; WUH-LIANG HWU Journal of the Formosan Medical Association3022
2712006Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infantsYeh J.-N.; Jeng Y.-M.; Chen H.-L.; Ni Y.-H.; WUH-LIANG HWU ; Chang M.-H.Journal of Pediatrics3726
2722006Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyLee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; WUH-LIANG HWU Journal of Inherited Metabolic Disease2813
2732006Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU ; Hsieh F.J.; Stephenson D.A.; Yu C.L.Human mutation3127
2742006Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinomaTsai C.-W.; Yang C.-C.; Chen H.-L.; WUH-LIANG HWU ; Wu M.-Z.; Liu K.-L.; Wu M.-S.Journal of the Formosan Medical Association2723
2752006A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe diseaseKishnani P.S.; WUH-LIANG HWU ; Mandel H.; Nicolino M.; Yong F.; Corzo D.Journal of Pediatrics435382
2762006Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutationsWan L.; Hsu C.-M.; Tsai C.-H.; Lee C.-C.; WUH-LIANG HWU ; Tsai F.-J.Blood Cells, Molecules, and Diseases4036
2772005Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotypeTzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L.American Journal of Medical Genetics5551
2782005Mapping of psoriasis to 17q terminusWUH-LIANG HWU ; Yang C.-F.; Fann C.S.J.; Chen C.-L.; Tsai T.-F.; Chein Y.-H.; Chiang S.-C.; Chen C.-H.; Hung S.-I.; Wu J.-Y.; Chen Y.-T.Journal of Medical Genetics4439
2792005Parkin mutations and early-onset parkinsonism in a Taiwanese cohortWu R.-M.; Bounds R.; Lincoln S.; Hulihan M.; Lin C.-H.; WUH-LIANG HWU ; Chen J.; Gwinn-Hardy K.; Farrer M.Archives of Neurology6357
2802005KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3Lin L.-K.; Chien Y.-H.; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU Molecular Vision1916
2812005Plasma chitotriosidase activity and malaria (multiple letters)Chien Y.-H.; Chen J.-H.; WUH-LIANG HWU ; Musumeci S.Clinica Chimica Acta1517
2822005Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolismHuang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association1211
2832005Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformationChen C.-A.; Tang N.L.S.; Chen Y.-H.; Zhang W.-M.; Wang J.-K.; WUH-LIANG HWU BMC Medical Genetics33
2842005Spectrum of hypermethioninemia in neonatal screeningChien Y.-H.; Chiang S.-C.; Huang A.; WUH-LIANG HWU Early Human Development3225
2852005Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type CYang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; WUH-LIANG HWU ; Lee M.-J.Journal of Neurology, Neurosurgery and Psychiatry2522
2862005Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-upWang T.-J.; Chen M.-S.; Shih Y.-F.; WUH-LIANG HWU ; Lai M.-Y.American Journal of Ophthalmology108
2872005Adenoviral interneuronal transportation after retrograde gene transfer in miceTsai L.-K.; Tsai M.-S.; Shyue S.-K.; WUH-LIANG HWU ; Li H.Molecular Brain Research22
2882005Reye's syndrome developing in an infant on treatment of Kawasaki syndromeWei C.-M.; Chen H.-L.; Lee P.-I.; Chen C.-M.; Ma C.-Y.; WUH-LIANG HWU Journal of Paediatrics and Child Health2316
2892004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.Chien Y.H.; WUH-LIANG HWU ; Ariga T.Human genetics0
2902004A step-wise diagnosis of fragile X syndrome in TaiwanHuang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; Chien Y.-H.; WUH-LIANG HWU Acta Paediatrica Taiwanica70
2912004Molecular diagnosis of Wiskott-Aldrich syndrome in TaiwanChien Y.-H.; WUH-LIANG HWU ; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L.Journal of Microbiology, Immunology and Infection70
2922004Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese childrenLiang J.-S.; Lee W.-T.; WUH-LIANG HWU ; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z.Acta Paediatrica Taiwanica90
2932004Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature reviewChu S.-Y.; Tsai W.-Y.; Chien Y.-H.; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU Tzu Chi Medical Journal1
2942004Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatmentChien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU Acta Paediatrica Taiwanica40
2952004Carbohydrate deficient glycoprotein syndrome type IAChu K.-L.; Chien Y.-H.; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU Journal of the Formosan Medical Association22
2962004DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patientsWang C.K.; Wu Y.R.; WUH-LIANG HWU ; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; Chiu M.J.; Lu C.J.; Lee-Chen G.J.European Neurology1616
2972004Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one caseWUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; Chien Y.-H.; Chu S.-Y.Acta Paediatrica Taiwanica20
2982004RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoterWu S.-M.; Kuo W.-C.; WUH-LIANG HWU ; Hwa K.-Y.; Mantovani R.; Lee Y.-M.Molecular Pharmacology1112
2992004Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystoniaWUH-LIANG HWU ; Lu M.-Y.; Hwa K.-Y.; Fan S.-W.; Lee Y.-M.Annals of Neurology1110
3002004Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.Chen C.P.; Lin S.P.; Tzen C.Y.; Tsai F.J.; WUH-LIANG HWU ; Wang W.Prenatal diagnosis90
3012004Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.Chien Y.H.; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU Human mutation330
3022004Trisomy 18 in monozygotic twins with discordant phenotypesLee J.-T.; Chou H.-C.; Tsao P.-N.; Hsieh W.-S.; WUH-LIANG HWU Journal of the Formosan Medical Association65
3032004Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphanChien Y.-H.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; WUH-LIANG HWU Journal of Child Neurology3429
3042004Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]WUH-LIANG HWU ; Chien Y.-H.; Hsu C.-C.American Journal of Medical Genetics33
3052004Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessmentPeng S.S.-F.; Tseng W.-Y.I.; Chien Y.-H.; WUH-LIANG HWU ; Liu H.-M.American Journal of Neuroradiology2622
3062003Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblingsChien Y.-H.; Yang Y.-H.; WUH-LIANG HWU ; Chou C.-C.; Chiang B.-L.Journal of Microbiology, Immunology and Infection0
3072003Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both?WUH-LIANG HWU ; Yu C.-L.Acta Paediatrica Taiwanica0
3082003The Diagnosis and Treatment of Glycogen Storage Disease Type IaWUH-LIANG ​​HWU Acta Paediatrica Taiwanica 0
3092003Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiencyWUH-LIANG HWU ; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.Human Genetics30
3102003Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One CaseWang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU Acta Paediatrica Taiwanica60
3112003Living-related liver transplantation for methylmalonic acidemia: Report of one caseHsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; WUH-LIANG HWU Acta Paediatrica Taiwanica230
3122003Neonatal screening and monitoring system in Taiwan.WUH-LIANG HWU ; Huang A.C.; Chen J.S.; Hsiao K.J.; Tsai W.Y.The Southeast Asian journal of tropical medicine and public health100
3132003Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cellsWUH-LIANG HWU ; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M.Biochemical and Biophysical Research Communications1211
3142003Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry diseaseYang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU ; Chiang S.-C.; Lien Y.-H.H.Clinical Genetics1815
3152003Phenotype and genotype analyses of ornithine transcarbamylase deficiency in TaiwaneseHuang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lin S.-J.; Lu F.L.; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association21
3162003Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populationsKobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU ; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T.Molecular Genetics and Metabolism5859
3172003Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testingWUH-LIANG HWU ; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.Journal of the Formosan Medical Association74
3182002Gene Analysis in Huntington's DiseaseWUH-LIANG ​​HWU ; Shu-Chuan Chiang台灣醫學 0
3192002Cockayne syndrome in a familyChien Y.-H.; Chou H.-C.; WUH-LIANG HWU Acta Paediatrica Taiwanica30
3202002An infant with heart murmur and dysmorphic faceChien Y.-H.; Kuo P.-L.; WUH-LIANG HWU Acta Paediatrica Taiwanica10
3212002Educational Course of the Wei Foundation for Pediatric Research Brief Case Reports-Neonatal Progeroid SyndromeWUH-LIANG ​​HWU ACTA PAEDIATRICA TAIWANICA 
3222002Pamidronate treatment of severe osteogenesis imperfecta in a newborn infantChien Y.-H.; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU Journal of Inherited Metabolic Disease1514
3232002DiGeorge sequence with hypogammaglobulinemia: A case reportChien Y.-H.; Yang Y.-H.; Chu S.-Y.; WUH-LIANG HWU ; Kuo P.-L.; Chiang B.-L.Journal of Microbiology, Immunology and Infection60
3242002Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in TaiwanChu S.-Y.; Chiang S.-C.; Chien Y.-H.; WUH-LIANG HWU Acta Paediatrica Taiwanica70
3252002Cranial MR spectroscopy of tetrahydrobiopterin deficiencyChien Y.-H.; Peng S.-F.; Wang T.-R.; WUH-LIANG HWU American Journal of Neuroradiology108
3262002Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher diseaseHsu C.-C.; Chien Y.-H.; Lai M.-Y.; WUH-LIANG HWU Journal of the Formosan Medical Association76
3272002A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.Tang N.L.; WUH-LIANG HWU ; Chan R.T.; Law L.K.; Fung L.M.; Zhang W.M.Human mutation4238
3282002Spontaneous chylothorax in a case of cardio-facio-cutaneous syndromeChan P.-C.; Chiu H.-C.; WUH-LIANG HWU Clinical Dysmorphology53
3292002Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutationsWu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; WUH-LIANG HWU ; Tai C.-H.; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.Movement Disorders3327
3302002Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot studyChu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; Chien Y.-H.; WUH-LIANG HWU Journal of the Formosan Medical Association1512
3312001Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiencyBinzak B.A.; Wevers R.A.; Moolenaar S.H.; Lee Y.-M.; WUH-LIANG HWU ; Poggi-Bach J.; Engelke U.F.H.; Hoard H.M.; Vockley J.G.; Vockley J.American Journal of Human Genetics5244
3322001Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]Wu C.-H.; WUH-LIANG HWU ; Wang J.-K.; Young C.; Peng S.S.-F.; Kuo M.-F.American Journal of Medical Genetics87
3332001Molecular genetics of glycogen-storage disease type 1a in Chinese patients of TaiwanWong L.-J.C.; WUH-LIANG HWU ; Dai P.; Chen T.-J.Molecular Genetics and Metabolism1411
3342001A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.WUH-LIANG HWU ; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H.Journal of medical genetics220
3352001Epileptic seizures and electroencephalographic evolution in genetic leukodystrophiesWang P.-J.; WUH-LIANG HWU ; Shen Y.-Z.Journal of Clinical Neurophysiology3224
3362001Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutationsChien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU Journal of Inherited Metabolic Disease2920
3372001MRI in a case of adult-onset citrullinemiaChen Y.-F.; Huang Y.-C.; Liu H.-M.; WUH-LIANG HWU Neuroradiology2020
3382000臺灣一位Hurler型多醣儲積症(MPS IH)患者的IDUA基因突變分析及記述Yen-Ni Teng; Guey-Jen Lee-Chen; Tso-Ren Wang; WUH-LIANG HWU 師大學報:數理與科技類0
3392000一般兒科訓練WUH-LIANG HWU ; Mei-Hwan Wu醫學教育0
3402000龐培(Pompe)氏症之酵素補充治療WUH-LIANG HWU 當代醫學0
3412000Congenital contractural arachnodactyly (Beals syndrome)Su P.-H.; Hou J.-W.; WUH-LIANG HWU ; Wu M.-H.; Wang J.-K.; Wang T.-R.Acta Paediatrica Taiwanica130
3422000Metabolic disorders mimicking Reye's syndromeChang P.-F.; Huang S.-F.; WUH-LIANG HWU ; Hou J.-W.; Ni Y.-H.; Chang M.-H.Journal of the Formosan Medical Association117
3432000Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one caseYang T.-Y.; Chen H.-L.; Ni Y.-H.; WUH-LIANG HWU ; Chang M.-H.Acta Paediatrica Taiwanica50
3442000Dopa-responsive dystonia is induced by a dominant-negative mechanismWUH-LIANG HWU ; Chiou Y.-W.; Lai S.-Y.; Lee Y.-M.Annals of Neurology42
3452000Carnitine transport defect presenting with hyperammonemia: Report of one caseWUH-LIANG HWU ; Chiang S.-C.; Chang M.-H.; Wang T.-R.Acta Paediatrica Taiwanica80
3462000Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type IaChiang S.-C.; Lee Y.-M.; Chang M.-H.; Wang T.-R.; Ko T.-M.; WUH-LIANG HWU Journal of Human Genetics129
3472000Late-onset holocarboxylase synthetase deficiency with homologous R508W mutationWUH-LIANG HWU ; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; Tsai W.-Y.Journal of the Formosan Medical Association97
3482000Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/STeng Y.N.; Wang T.R.; WUH-LIANG HWU ; Lin S.P.; Lee-Chen G.J.Clinical Genetics2018
3491999Allele distribution at the FMR1 locus in the general Chinese populationChiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU Clinical Genetics1914
3501999Molecular genetic study of Pompe disease in Chinese patients in TaiwanKo T.-M.; WUH-LIANG HWU ; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.-M.Human Mutation61
3511999Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutationsWUH-LIANG HWU ; Chiang S.-C.; Huang S.-F.; Chang M.-H.; Wen W.-H.; Wang T.-R.Journal of Inherited Metabolic Disease85
3521999Neonatal type of nonketotic hyperglycinemiaLu F.L.; Wang P.-J.; WUH-LIANG HWU ; Tsou Yau K.-I.; Wang T.-R.Pediatric Neurology3626
3531999Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))Ko T.-M.; WUH-LIANG HWU ; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K.Human Mutation
35419993-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one caseLee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S.Acta Paediatrica Taiwanica30
3551999Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutationWUH-LIANG HWU ; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M.Human Genetics3127
3561999Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantationHsu Y.-S.; WUH-LIANG HWU ; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H.Bone Marrow Transplantation5137
3571998Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick diseasePeng S.S.-F.; Li Y.-W.; WUH-LIANG HWU Tzu Chi Medical Journal
3581998Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase geneWong L.-J.C.; Liang M.-H.; WUH-LIANG HWU ; Lam C.-W.Human Genetics911
3591998The controversy regarding diagnostic criteria for early myoclonic encephalopathyWang P.-J.; Lee W.-T.; WUH-LIANG HWU ; Young C.; Yau K.-I.T.; Shen Y.-Z.Brain and Development2012
3601998Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese populationLee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU ; Day K.-R.; Wang C.-K.Journal of the Formosan Medical Association22
3611998Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndromeTsai F.-J.; WUH-LIANG HWU ; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H.Human Mutation20
3621998Mucopolysaccharidosis type II (Hunter's syndrome) in TaiwanSu P.-H.; WUH-LIANG HWU ; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R.Journal of the Formosan Medical Association11
3631997Ornithine transcarbamylase deficiencyYeh S.-J.; WUH-LIANG HWU ; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R.Journal of the Formosan Medical Association23
3641997FMR1 enhancer is regulated by cAMP through a cAMP-responsive elementWUH-LIANG HWU DNA and Cell Biology3028
3651997Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher diseaseWang P.-J.; WUH-LIANG HWU ; Lee W.-T.; Wang T.-R.; Shen Y.-Z.Pediatric Neurology2926
3661996Camptomelic dysplasia: report of one caseTsao, P. N.; Teng, R. J.; WUH-LIANG ​​HWU ; Tsou Yau, K. I.; Wang, T. R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui
3671996Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous regionTsai, C. H.; Tsai, F. J.; WUH-LIANG ​​HWU ; Wang, T. R.; Shu, S. G.; Liu, S. C.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui
3681996Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasiaWang T.-R.; Wang W.-P.; WUH-LIANG HWU ; Lee M.-L.Human Mutation6
3691996Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.Tsai L.P.; Sue W.C.; WUH-LIANG HWU ; Lin K.H.; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui70
3701996Diagnosis of mucopolysaccharidosis type IIIBWUH-LIANG HWU Acta Paediatrica Sinica10
3711996Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.Tsai S.Y.; Jeng Y.M.; WUH-LIANG HWU ; Ni Y.H.; Chang M.H.; Wang T.R.Journal of the Formosan Medical Association = Taiwan yi zhi73
3721996Arylsulfatase A pseudodeficiency in ChineseWUH-LIANG HWU ; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R.Human Genetics64
3731995Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene.Tsai F.J.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Shu S.G.; Liu S.C.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui00
3741995MPS I: Mutation and PolymorphismGuey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG ​​HWU ; Tso-Ren Wang師大生物學報0
3751995魏火曜兒科研究基金會教育課程-病例簡報-骨髓移植在Maroteux-Lamy症候群的應用林文騰; 周獻堂; WUH-LIANG HWU ; 林凱信; 王作仁Acta Paediatrica Sinica0
3761995Molecular diagnosis of Gaucher disease type II.Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Liu S.C.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui20
3771995Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type laWUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R.Human Molecular Genetics2629
3781995Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096))WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chang S.-M.; Wang T.-R.Human Molecular Genetics1
3791994Diagnosis of I-cell disease.WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui20
3801994Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in TaiwanWang P.-J.; Ko Y.-M.; Young C.; WUH-LIANG HWU ; Shen Y.-Z.Brain and Development89
3811994Cytogenetic study of mentally retarded children in TaipeiWang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU ; Wang T.-R.; Wuu K.-D.Journal of Biomedical Science10
3821994Fucosidosis in a Chinese girlWUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R.Journal of Inherited Metabolic Disease22
3831993In Vitro DNA Methylation Inhibits FMR-1 PromoterWUH-LIANG HWU ; Lee Y.M.; Lee S.C.; Wang T.R.Biochemical and Biophysical Research Communications3135
3841993Y-specific polymerase chain reaction for the interpretation of a chromosome marker.Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Tsai H.M.; Liu C.H.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui00
3851993Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.Hou J.W.; WUH-LIANG HWU ; Tsai W.Y.; Lee J.S.; Wang T.R.; Lue H.C.Journal of the Formosan Medical Association = Taiwan yi zhi200
3861993Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis.Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Chou S.P.; Liu C.H.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui30
3871992DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.WUH-LIANG HWU ; Chen R.L.; Lin K.H.; Wang T.R.Journal of the Formosan Medical Association = Taiwan yi zhi00
3881992Measurement of urinary orotic acid by gas chromatography-mass spectrometry.WUH-LIANG HWU ; Chou S.P.; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui30
3891992Transfusion?acquired cytomegalovirus infection in children in a hyperendemic areaLee P.?I.; Chang M.?H.; WUH-LIANG HWU ; Kao C.?L.; Lee C.?Y.Journal of Medical Virology1410
3901991Crisis in Gaucher disease simulating osteomyelitis: report of one case.Lai Y.C.; WUH-LIANG HWU ; Wang T.R.; Hsieh K.H.; Lee C.Y.; Li Y.W.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui00
3911991Niemann-Pick disease type B with ocular involvement: report of a case.Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui00
3921991Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.WUH-LIANG HWU ; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui20
3931991Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.WUH-LIANG HWU ; Tsai W.Y.; Lee J.S.; Wang P.J.; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui30
3941991A clinical observation of achondroplasia.WUH-LIANG HWU ; Wang T.R.Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui20
3951991Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNAKuo F.C.; WUH-LIANG HWU ; Valle D.; Darnell Jr. J.E.Proceedings of the National Academy of Sciences of the United States of America6060
3961989Hereditary progressive dystonia with marked diurnal fluctuation: report of a case.WUH-LIANG HWU ; Wang P.J.; Shen Y.Z.Acta Paediatrica Sinica20
3971989A clinical study of intravenous immunoglobulin therapy for childhood idiopathic thrombocytopenic purpuraLin D.-T.; WUH-LIANG HWU ; Lin K.-H.; Lin K.-S.Journal of the Formosan Medical Association10
3981989Alkaptonuria in a Chinese babyWang T.-R.; WUH-LIANG HWU Journal of Inherited Metabolic Disease11
3991988Idiopathic inflammatory bowel disease in children and adolescents.WUH-LIANG HWU ; Chang M.H.; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y.Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association20