Results 1-240 of 240 (Search time: 0.004 seconds).

Issue DateTitleAuthor(s)SourcescopusWOSFulltext/Archive link
12021Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN ; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi0
22021A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from TaiwanKuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN ; Huang, Pei-Hsin; Yang, Chih-ChaoNeuromuscular disorders : NMD1
32021CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screeningWeng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN Genetics in medicine : official journal of the American College of Medical Genetics1
42020Long-term effects of medical management on growth and weight in individuals with urea cycle disordersPosset R.; Garbade S.F.; Gleich F.; Gropman A.L.; de Lonlay P.; Hoffmann G.F.; Garcia-Cazorla A.; Nagamani S.C.S.; Baumgartner M.R.; Schulze A.; Dobbelaere D.; Yudkoff M.; K?lker S.; Zielonka M.; Ah?Mew N.; Berry S.A.; McCandless S.E.; Coughlin C.; Enns G.; Gallagher R.C.; Burrage L.C.; Seminara J.; Harding C.O.; Burgard P.; Le?Mons C.; Merritt J.L.; II, Stricker T.; Bedoyan J.K.; Berry G.T.; Diaz G.A.; Wong D.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.D.; Burlina A.B.; Le?o?Teles E.; Pedr?n-Giner C.; Lund A.M.; Dionisi-Vici C.; Williams M.; M?tze U.; Karall D.; Blasco-Alonso J.; Couce M.L.; Sykut-Cegielska J.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Bari? I.; Schiff M.; YIN-HSIU CHIEN ; Lindner M.; Chabrol B.; Skouma A.; Zeman J.; Sokal E.; Santer R.; Eyskens F.; Freisinger P.; Pe?a-Quintana L.; Roland D.; Cort?s-Saladelafont E.; Djordjevic M.; Urea Cycle Disorders Consortium (UCDC), European registry; network for Intoxication type Metabolic Diseases (E-IMD)Scientific Reports3
52020The timely needs for infantile onset pompe disease newborn screening—practice in TaiwanChiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; Lee N.-C.; Hwu W.-L.International Journal of Neonatal Screening0
62020Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; 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 Diseases4
72020Development of newborn screening for pompe diseaseHwu W.-L.; YIN-HSIU CHIEN International Journal of Neonatal Screening0
82020Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemmaWeng H.-L.; Yang F.-J.; YIN-HSIU CHIEN ; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.Journal of Nephrology0
92020Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infantChu S.-Y.; Chien C.-C.; Hwu W.-L.; Wang P.-J.; YIN-HSIU CHIEN Blood Cells, Molecules, and Diseases3
102020Ultrastructural 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.; Hwu W.-L.; Tseng W.-Y.I.; YIN-HSIU CHIEN Scientific Reports0
112020Cardiac manifestations and gene mutations of patients with RASopathies in TaiwanLee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN ; 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 A2
122020Turner syndrome and cardiovascular anomalies: Care for girls and womenChiu H.-H.; YIN-HSIU CHIEN Pediatrics and Neonatology0
132020Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohortChen S.-J.; Lee B.-C.; Lee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.; Lin C.-H.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics0
142020Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down SyndromeFang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN ; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.ACS Chemical Neuroscience2
152020Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newbornsYIN-HSIU CHIEN ; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L.Orphanet Journal of Rare Diseases13
162020Diversity in heritable disorders of connective tissue at a single centerHsu R.-H.; YIN-HSIU CHIEN ; Hwu W.-L.; Lee N.-C.Connective Tissue Research0
172020Dietary intake and nutritional status of patients with phenylketonuria in TaiwanWeng H.-L.; Yang F.-J.; Chen P.-R.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN Scientific Reports0
182020Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesKuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN ; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; Lee N.-C.Molecular Genetics and Genomic Medicine3
192020Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiencesYIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.Molecular Genetics and Metabolism Reports6
202020Thyroid 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Tsai W.-Y.Journal of the Formosan Medical Association0
212020REM 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.; YIN-HSIU CHIEN ; Chen C.-L.; Hwu W.-L.; Lee P.-L.Journal of the Formosan Medical Association3
222020CMAP 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.; Hwu W.-L.; Lee W.-T.; Lee N.-C.; YIN-HSIU CHIEN Genetics in Medicine1
232019Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiencyHo S.-Y.; YIN-HSIU CHIEN ; Tsai L.-K.; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C.Frontiers in Cellular Neuroscience2
242019Congenital generalized lipodystrophy in TaiwanHsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN ; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.Journal of the Formosan Medical Association4
252019Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegsHsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; Lee N.-C.Pediatrics and Neonatology1
262019Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationHsu R.-H.; YIN-HSIU CHIEN ; Hwu W.-L.; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.Orphanet Journal of Rare Diseases6
272019Reply 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America6
282019GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryReuser A.J.J.; van der Ploeg A.T.; YIN-HSIU CHIEN ; Llerena J.; Jr.; Abbott M.-A.; Clemens P.R.; Kimonis V.E.; Leslie N.; Maruti S.S.; Sanson B.-J.; Araujo R.; Periquet M.; Toscano A.; Kishnani P.S.; on behalf of the Pompe Registry SitesHuman Mutation21
292019Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN ; 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 Medicine8
302019Clinical features of Pompe disease with motor neuronopathyTsai L.-K.; Hwu W.-L.; Lee N.-C.; Huang P.-H.; YIN-HSIU CHIEN Neuromuscular Disorders1
312019A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanLee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics4
322019International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuriaMuntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN ; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K.Molecular Genetics and Metabolism15
332019Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiencyTseng C.-H.; YIN-HSIU CHIEN ; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; Hwu W.-L.Annals of Neurology9
342019Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsChu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.Orphanet Journal of Rare Diseases10
352019Monitoring of liver stiffness by transient elastography during the treatment of Gaucher diseaseChin C.-Y.; Hsu C.-T.; Lee C.-S.; YIN-HSIU CHIEN ; Wu J.-F.Pediatrics and Neonatology1
362019Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentMolema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; Hwu W.-L.; YIN-HSIU CHIEN ; 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 Metabolism12
372019Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryMolema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; Hwu W.-L.; YIN-HSIU CHIEN ; 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 Disease8
382019Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese populationChen S.-J.; Lee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.; Lin C.-H.Brain and Behavior2
392019Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiencyYu H.-H.; Hu T.-C.; Lee N.-C.; YIN-HSIU CHIEN ; Yang Y.-H.; Hwu W.-L.; Chiang B.-L.Journal of Microbiology, Immunology and Infection4
402019Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell LymphopeniaChee S.-Y.; Guo J.-W.; Huang C.-J.; YIN-HSIU CHIEN ; Lee Y.-C.; Feng W.-K.Cytogenetic and Genome Research0
412019Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseYu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; Hwu W.-L.; YIN-HSIU CHIEN ; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.npj Genomic Medicine11
422019Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmiaJuang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN Genetics in Medicine0
432019High incidence of co-existing GLA variants and stroke susceptibilityYIN-HSIU CHIEN ; Hwu W.-L.European Journal of Neurology0
442018Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe diseaseChiang S.-C.; Chen P.-W.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; YIN-HSIU CHIEN International Journal of Neonatal Screening9
452018Clinical 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Tsai W.-Y.Journal of the Formosan Medical Association6
462018Gestational age, not transient hyperthyrotropinemia impacts brain white matter diffusion tensor imaging in premature infantsHung P.-L.; Lui C.-C.; Lee C.-C.; YIN-HSIU CHIEN ; Chen F.-S.; Chen C.-C.; Yu H.-R.; Chung M.-Y.; Huang L.-T.Experimental and Therapeutic Medicine1
472018Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN ; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; Hwu W.-L.; 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 Disease0
482018Functional independence of Taiwanese children with Prader–Willi syndromeLee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; Lee N.-C.; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P.American Journal of Medical Genetics, Part A1
492018A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease MiceLee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; YIN-HSIU CHIEN Molecular Neurobiology19
502018Results 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.; YIN-HSIU CHIEN ; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; Hwu W.-L.; Wu C.-J.Kidney and Blood Pressure Research10
512018Natural history of aromatic L-amino acid decarboxylase deficiency in TaiwanHwu W.-L.; YIN-HSIU CHIEN ; Lee N.-C.; Li M.-H.JIMD Reports0
522018Clinical 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.; Hwu W.-L.; YIN-HSIU CHIEN ; Lin J.-L.; Lin S.-P.Orphanet Journal of Rare Diseases4
532018Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?YIN-HSIU CHIEN ; Lee N.-C.; Hwu W.-L.; Fang J.-Y.European Journal of Neurology3
542018SHOX deficiency in short Taiwanese children: A single-center experienceTung Y.-C.; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; YIN-HSIU CHIEN ; Tsai W.-Y.Journal of the Formosan Medical Association1
552018Biparental 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.Proceedings of the National Academy of Sciences of the United States of America155
562017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseYIN-HSIU CHIEN ; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.Molecular Genetics and Metabolism Reports6
572017Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn ScreeningYIN-HSIU CHIEN ; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.Journal of Pediatrics58
582017Russell–Silver syndrome presenting with ambiguous genitaliaChang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; Lee N.-C.Journal of the Formosan Medical Association1
592017Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disordersBari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN ; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B.; Wedell A.; Blom H.J.Journal of Inherited Metabolic Disease25
602017A review of Biomarkers for Alzheimer’s Disease in Down SyndromeLee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.Neurology and Therapy10
612017Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe diseaseZeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; YIN-HSIU CHIEN European Journal of Paediatric Neurology8
622017Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trialYIN-HSIU CHIEN ; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.The Lancet Child and Adolescent Health43
632017Blood 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Chiu M.-J.Frontiers in Aging Neuroscience31
642017Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiencyWai Luk A.D.; Lee P.P.; Mao H.; Chan K.-W.; Chen X.Y.; Chen T.-X.; He J.X.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Daengsuwan T.; Gupta A.; Singh S.; Rawat A.; Latiff A.H.A.; Lee A.C.W.; Shek L.P.; Nguyen T.V.A.; Chin T.J.; YIN-HSIU CHIEN ; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; Yu H.-H.; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L.Frontiers in Immunology19
652017Newborn screening for severe combined immunodeficiency in TaiwanYIN-HSIU CHIEN ; 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.; Hwu W.-L.International Journal of Neonatal Screening0
662017Genetic 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.Molecular Genetics and Metabolism6
672016Advances in newborn screening for Pompe disease and resulting clinical outcomesYIN-HSIU CHIEN ; Hwu W.-L.; Lee N.-C.Expert Opinion on Orphan Drugs0
682016Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case seriesLin H.-Y.; Chuang C.-K.; Wang C.-H.; YIN-HSIU CHIEN ; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; Hwu W.-L.; Ke Y.-Y.; Lin S.-P.Molecular Genetics and Metabolism Reports16
692016Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene AymePeng S.S.-F.; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN Orphanet Journal of Rare Diseases19
702016Integrated care for Down syndromeLee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.Congenital Anomalies1
712016Long-term outcome for Down syndrome patients with hematopoietic disordersLi M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; YIN-HSIU CHIEN ; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.Journal of the Formosan Medical Association1
722016Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyLiu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; Lee N.-C.; Hsiao K.-J.; Chiu Y.-H.Clinica Chimica Acta3
732016Bioevaluation 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.; YIN-HSIU CHIEN ; Hwu W.-L.European Journal of Medicinal Chemistry10
7420163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyYIN-HSIU CHIEN ; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.Molecular Genetics and Metabolism26
752016Causes 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.; Hwu W.-L.; YIN-HSIU CHIEN ; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.Orphanet Journal of Rare Diseases18
762015Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screeningYIN-HSIU CHIEN ; Goldstein J.L.; Hwu W.-L.; 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 Reports0
772015Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birthYIN-HSIU CHIEN ; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.Journal of Pediatrics68
782015Mortality, 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.Intensive Care Medicine1
792015Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotesYIN-HSIU CHIEN ; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; Hwu W.-L.; 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 Diseases21
802015Incidence of severe combined immunodeficiency through newborn screening in a Chinese populationYIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.Journal of the Formosan Medical Association29
812015Congenital malformations in newborns - A challenge unmet for decadesLee N.-C.; YIN-HSIU CHIEN ; Hwu W.-L.Pediatrics and Neonatology1
822015X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patientsTsai H.-Y.; Yu H.-H.; YIN-HSIU CHIEN ; Chu K.-H.; Lau Y.-L.; Lee J.-H.; Wang L.-C.; Chiang B.-L.; Yang Y.-H.Journal of Microbiology, Immunology and Infection15
832015Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyLee N.-C.; Muramatsu S.-I.; YIN-HSIU CHIEN ; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.Molecular Therapy14
842014Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in TaiwanChiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN ; Hsiao K.-J.; Liu T.-T.Biochemical Genetics8
852014Parental discussion of G6PD deficiency and child health: Implications for clinical practiceGuan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; Hwu W.-L.Archives of Disease in Childhood0
862014Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotypeLee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN ; Hwu W.-L.JIMD Reports0
872014Outcome of early-treated type III Gaucher disease patientsLee N.-C.; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.Blood Cells, Molecules, and Diseases13
882014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesHwu W.-L.; YIN-HSIU CHIEN ; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry5
892014Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolismTsai I.-J.; Hwu W.-L.; Huang S.-C.; Lee N.-C.; Wu E.-T.; YIN-HSIU CHIEN ; Tsau Y.-K.Pediatric Nephrology12
902014Clinical characteristics and outcomes of primary antibody deficiency: A 20-year follow-up studyChan H.-Y.; Yang Y.-H.; Yu H.-H.; YIN-HSIU CHIEN ; Chiang L.-L.; Chiang B.-L.Journal of the Formosan Medical Association10
912014Development of a feasible assay for the detection of GAA mutations in patients with Pompe diseaseEr T.-K.; Chen C.-C.; YIN-HSIU CHIEN ; Liang W.-C.; Kan T.-M.; Jong Y.-J.Clinica Chimica Acta3
922014Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vectorLee N.-C.; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.Human Gene Therapy13
932014Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfectaLin C.-H.; YIN-HSIU CHIEN ; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C.Pediatrics and Neonatology5
942014The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patientsFeeney E.J.; Austin S.; YIN-HSIU CHIEN ; Mandel H.; Schoser B.; Prater S.; Hwu W.-L.; Ralston E.; Kishnani P.S.; Raben N.Acta Neuropathologica Communications40
952014Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe diseaseYIN-HSIU CHIEN ; Lee N.-C.; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.Muscle and Nerve5
962014Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spotsChen P.-W.; Lee N.-C.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; Hwu W.-L.Clinica Chimica Acta21
972013Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiencyLee N.-C.; Shieh Y.-D.; YIN-HSIU CHIEN ; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.Neurobiology of Disease24
982013Analysis of lyso-globotriaosylsphingosine in dried blood spotsJohnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN ; Mar?di L.; Hwu W.-L.; Bodamer O.A.Annals of Laboratory Medicine23
992013erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.Journal of Inherited Metabolic Disease1
1002013Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsWang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN BMC Medical Genetics15
1012013Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype CorrelationChen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; Lee N.-C.Human Mutation10
1022013Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CYIN-HSIU CHIEN ; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.Journal of Inherited Metabolic Disease31
1032013Pompe disease: Early diagnosis and early treatment make a differenceYIN-HSIU CHIEN ; Hwu W.-L.; Lee N.-C.Pediatrics and Neonatology79
1042013Lung toxicity of hydroxypropyl-β-cyclodextrin infusionYIN-HSIU CHIEN ; Shieh Y.-D.; Yang C.-Y.; Lee N.-C.; Hwu W.-L.Molecular Genetics and Metabolism18
1052013Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe DiseaseYIN-HSIU CHIEN ; Han D.-S.; Hwu W.-L.; Thurberg B.L.; Yang W.-S.PLoS ONE10
1062013Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotypeLee W.-I.; Huang J.-L.; Yeh K.-W.; Yang M.-J.; Lai M.-C.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin S.-J.; Jaing T.-H.; Chen S.-H.; Hsieh M.-Y.; Yu H.-H.; YIN-HSIU CHIEN ; Shyur S.-D.Pediatric Infectious Disease Journal17
1072013Web-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.; YIN-HSIU CHIEN ; Hwu W.-L.; Lai F.Journal of Medical Internet Research10
1082013Fatty acid oxidation disorders in a chinese population in TaiwanYIN-HSIU CHIEN ; Lee N.-C.; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; Hwu W.-L.JIMD Reports0
1092013Promising outcomes in glutaric aciduria type i patients detected by newborn screeningLee C.-S.; YIN-HSIU CHIEN ; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; Lee N.-C.Metabolic Brain Disease21
1102013Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originWang J.; Cui H.; Lee N.-C.; Hwu W.-L.; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W.Genetics in Medicine39
1112013AADC deficiency. Occurring in humans, modeled in rodents.Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN ; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology0
1122013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsHwu W.-L.; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 20120
1132013Diagnosing mucopolysaccharidosis IVAWood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN ; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; Hwu W.-L.; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.Journal of Inherited Metabolic Disease64
1142013Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutationYIN-HSIU CHIEN ; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; Hwu W.-L.Journal of Inherited Metabolic Disease15
1152012Late 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.; Hwu P.W.L.; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.Molecular Genetics and Metabolism21
1162012Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.YIN-HSIU CHIEN ; Lee N.C.; Chiang S.C.; Desnick R.J.; Hwu W.L.Molecular medicine (Cambridge, Mass.)50
1172012Early pathologic changes and responses to treatment in patients with later-onset Pompe diseaseYIN-HSIU CHIEN ; Lee N.-C.; Huang P.-H.; Lee W.-T.; Thurberg B.L.; Hwu W.-L.Pediatric Neurology14
1182012Integrating human genome database into electronic health record with sequence alignment and compression mechanismChen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; Hwu W.-L.Journal of Medical Systems4
1192012Newborn screening for phenylketonuria: Machine learning vs cliniciansChen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; YIN-HSIU CHIEN ; Hwu W.-L.; Lai F.Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 20120
1202012An 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.; YIN-HSIU CHIEN ; Hwu W.-L.Genetic Vaccines and Therapy0
1212012Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring systemChen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN ; Chang C.-C.; Chen H.-L.; Chang M.-H.Journal of Pediatrics11
1222012Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: Systematic literature review and evidence from studies with miglustatWalterfang M.; YIN-HSIU CHIEN ; Imrie J.; Rushton D.; Schubiger D.; Patterson M.C.Orphanet Journal of Rare Diseases46
1232012Multimodel 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.; YIN-HSIU CHIEN ; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.Journal of Human Genetics16
1242012A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a childLiu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.Pediatrics and Neonatology8
1252012Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identificationHuang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN ; 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
1262012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; Hwu W.-L.; Lee N.-C.; Hsu L.-W.; YIN-HSIU CHIEN Molecular Genetics and Metabolism50
1272012Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationLi S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN ; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C.Journal of Child Neurology9
1282012Gene therapy for aromatic L-amino acid decarboxylase deficiencyHwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.Science Translational Medicine136
1292012Enhanced 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Mei B.; Hoffman G.L.Genetics in Medicine84
1302011Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseYIN-HSIU CHIEN ; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; Hwu W.-L.Molecular Genetics and Metabolism8
1312011Congenital hypopituitarism due to POU1F1 gene mutationLee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; YIN-HSIU CHIEN ; Hwu W.-L.Journal of the Formosan Medical Association4
1322011Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapyChen C.-A.; YIN-HSIU CHIEN ; Hwu W.-L.; 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 Failure20
1332011Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identificationHuang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN ; 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 Genetics97
1342011Distribution, 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.; YIN-HSIU CHIEN ; 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.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.Immunobiology34
1352011A reliable password-based user authentication scheme for web-based human genome database systemChen W.-H.; Wu Z.-Y.; Lai F.; YIN-HSIU CHIEN ; Hwu W.-L.IEEE International Conference on Digital Ecosystems and Technologies0
1362011Clinical 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.; YIN-HSIU CHIEN ; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Dy B.; Dymerski M.; Rueda I.; Elvers B.; Eaton R.; Eckerd B.M.; El Mougy F.; Eroh S.; Espada M.; Evans C.; Fawbush S.; Fijolek K.F.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Hassan F.A.; He M.; Hietala A.; Himstedt L.; Hoffman G.L.; Hoffman W.; Hoggatt P.; Hopkins P.V.; Hougaard D.M.; Hughes K.; Hunt P.R.; Hwu W.-L.; 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 Medicine222
1372011Rapid progressive course of later-onset Pompe disease in Chinese patientsYang C.-C.; YIN-HSIU CHIEN ; Lee N.-C.; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.Molecular Genetics and Metabolism33
1382011Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motifEr T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN ; Chang J.-G.; Hwang J.-K.; Jong Y.-J.BMC Structural Biology25
1392011SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinomaChang K.-W.; Chen H.-L.; YIN-HSIU CHIEN ; Chen T.-C.; Yeh C.-T.Molecular Genetics and Metabolism16
1402011Cerebral diffusion tensor images in infants and neonates with infantile onset pompe diseasePeng S.S.-F.; YIN-HSIU CHIEN ; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y.Biomedical Engineering - Applications, Basis and Communications0
1412011Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screeningYIN-HSIU CHIEN ; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.Journal of Pediatrics62
1422010Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometryDajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.Clinica Chimica Acta41
1432010Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemiaFern?ndez-Irigoyen J.; Santamar?a E.; YIN-HSIU CHIEN ; Hwu W.-L.; 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 Metabolism26
1442010Complex 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.; YIN-HSIU CHIEN ; Hwu W.-L.American Journal of Medical Genetics, Part A13
1452010Newborn screening healthcare information system based on service-oriented architectureHsieh S.-H.; Hsieh S.-L.; YIN-HSIU CHIEN ; Weng Y.-C.; Hsu K.-P.; Chen C.-H.; Tu C.-M.; Wang Z.; Lai F.Journal of Medical Systems6
1462010Nationwide survey of extended newborn screening by tandem mass spectrometry in TaiwanNiu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; Hwu W.-L.; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.Journal of Inherited Metabolic Disease98
1472010Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programLabrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; Hwu W.-L.Molecular Genetics and Metabolism70
1482010Enzyme replacement therapy for mucopolysaccharidosis VI-experience in TaiwanLin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.Journal of Inherited Metabolic Disease15
1492010Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantationChen P.W.; Hwu W.L.; Ho M.C.; Lee N.C.; YIN-HSIU CHIEN ; Ni Y.H.; Lee P.H.Pediatric Transplantation25
1502010Diagnoses of newborns and mothers with carnitine uptake defects through newborn screeningLee N.-C.; Tang N.L.-S.; YIN-HSIU CHIEN ; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.Molecular Genetics and Metabolism54
1512010Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher diseaseYIN-HSIU CHIEN ; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L.Molecular Genetics and Metabolism2
1522010CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiencyChang K.-L.; Hwu W.-L.; Yeh H.-Y.; Lee N.-C.; YIN-HSIU CHIEN Blood Cells, Molecules, and Diseases14
1532010Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapyRaben N.; Ralston E.; YIN-HSIU CHIEN ; Baum R.; Schreiner C.; Hwu W.-L.; Zaal K.J.M.; Plotz P.H.Molecular Genetics and Metabolism51
1542010Newborn screening for neuropathic lysosomal storage disordersHwu W.-L.; YIN-HSIU CHIEN ; Lee N.-C.Journal of Inherited Metabolic Disease18
1552010Clinical aspects and genetic analysis of Taiwanese patients with Wiskott-Aldrich syndrome protein mutation: The first identification of X-linked thrombocytopenia in the Chinese with novel mutationsLee W.-I.; Huang J.-L.; Jaing T.-H.; Wu K.-H.; YIN-HSIU CHIEN ; Chang K.-W.Journal of Clinical Immunology13
1562009Cystathionine 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Hegele R.A.; Mudd S.H.Molecular Genetics and Metabolism36
1572009Glycogen Storage Disease Type Ib: The First Case in TaiwanHsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; Lee N.-C.; YIN-HSIU CHIEN Pediatrics and Neonatology2
1582009Schizencephaly in LEOPARD SyndromeLiang J.-S.; YIN-HSIU CHIEN ; Hwu W.-L.; Yeh S.-J.; Peng S.-F.Pediatric Neurology4
1592009X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed MalesChen S.-T.; Chen H.-L.; Ni Y.-H.; YIN-HSIU CHIEN ; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.Pediatrics and Neonatology4
1602009Newborn screening system based on adaptive feature selection and support vector machinesHsieh S.-H.; YIN-HSIU CHIEN ; Shen C.-P.; Chen W.-H.; Chen P.-H.; Hsieh S.-L.; Cheng P.-H.; Lai F.Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 20090
1612009Pseudogene-derived IKBKG gene mutations in incontinentia pigmentiLee N.C.; Huang C.H.; Hwu W.L.; YIN-HSIU CHIEN ; Chang Y.Y.; Chen C.H.; Ko T.M.Clinical Genetics5
1622009Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)Hwu W.-L.; YIN-HSIU CHIEN ; 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 Mutation218
1632009Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.YIN-HSIU CHIEN ; Hwu W.L.Human genetics0
1642009Eye anomalies and neurological manifestations in patients with PAX6 mutations.YIN-HSIU CHIEN ; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C.Molecular vision16
1652009Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseChen L.-R.; Chen C.-A.; Chiu S.-N.; YIN-HSIU CHIEN ; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.Journal of Pediatrics38
1662009A multi model voting enhancement for newborn screening healthcare information systemHsieh S.-H.; Cheng P.-H.; Hsieh S.-L.; Chen P.-H.; Weng Y.-C.; YIN-HSIU CHIEN ; Wang Z.; Lai F.Studies in Computational Intelligence0
1672009Caloric restriction in Alstr?m syndrome prevents hyperinsulinemiaLee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; Hwu W.-L.American Journal of Medical Genetics, Part A14
1682009Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional studyTessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN ; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M.Human Mutation41
1692009Pompe disease in infants: Improving the prognosis by newborn screening and early treatmentYIN-HSIU CHIEN ; 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.; Hwu W.-L.Pediatrics136
1702009龐貝氏症:新生兒篩檢發現個案之突變分析及治療成果YIN-HSIU CHIEN 臺灣大學臨床醫學研究所學位論文 
1712008Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular PlugChiu S.-N.; YIN-HSIU CHIEN ; Wu M.-H.; Wang J.-K.; Chen S.-J.Journal of Pediatrics9
1722008Chubby 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.; YIN-HSIU CHIEN ; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.Journal of Pediatric Gastroenterology and Nutrition9
1732008Detection 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.; Hwu W.-L.; YIN-HSIU CHIEN ; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.Journal of Structural Biology44
1742008A newborn screening system based on Service-Oriented Architecture embedded Support Vector MachineHsieh S.-H.; Hsieh S.-L.; YIN-HSIU CHIEN ; Wang Z.; Weng Y.-C.; Lai F.Proceedings of the 4th IEEE International Symposium on Service-Oriented System Engineering, SOSE 20080
1752008Brain Damage by Mild Metabolic Derangements in Methylmalonic AcidemiaLee N.-C.; YIN-HSIU CHIEN ; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L.Pediatric Neurology17
1762008Web Services based newborn screening system with Support Vector MachinesHsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; YIN-HSIU CHIEN ; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; Hwu W.-L.5th International Conference on Information Technology and Applications, ICITA 2008
1772008Screening for pompe disease and fabry diseaseHwu W.-L.; YIN-HSIU CHIEN ; Lee N.-C.Clinical Therapeutics1
1782008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewYen T.-Y.; Hwu W.-L.; YIN-HSIU CHIEN ; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.European Journal of Pediatrics35
1792008Myopathy in Gaucher diseaseTsai L.-K.; YIN-HSIU CHIEN ; Yang C.-C.; Hwu W.-L.Journal of Inherited Metabolic Disease0
1802008Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening programYIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.Pediatrics161
1812008Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe diseaseHuang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; YIN-HSIU CHIEN ; Hwu W.-L.; Wang J.-K.; Wu M.-H.Paediatric Anaesthesia5
1822008Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in TaiwanYIN-HSIU CHIEN ; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.Southeast Asian Journal of Tropical Medicine and Public Health0
1832008Early detection of glutaric aciduria type I by newborn screening in TaiwanHsieh C.-T.; Hwu W.-L.; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN Journal of the Formosan Medical Association13
1842008A promoter sequence variant of ZNF750 is linked with familial psoriasisYang C.-F.; Hwu W.-L.; Yang L.-C.; Chung W.-H.; YIN-HSIU CHIEN ; Hung C.-F.; Chen H.-C.; Tsai P.-J.; Fann C.S.J.; Liao F.; Chen Y.-T.Journal of Investigative Dermatology22
1852007Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand...Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN ; Ralston E.; Nagaraju K.; Plotz P.H.Autophagy90
1862007Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe diseaseKishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; Hwu W.L.; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN ; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E.Neurology531
1872007Slipped capital femoral epiphysis as a complication of growth hormone therapy.Wang S.Y.; Tung Y.C.; Tsai W.Y.; YIN-HSIU CHIEN ; Lee J.S.; Hwu W.L.Journal of the Formosan Medical Association = Taiwan yi zhi5
1882007The genetics of atopic dermatitisYIN-HSIU CHIEN ; Hwu W.-L.; Chiang B.-L.Clinical reviews in Allergy and Immunology23
1892007Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.Hwu W.L.; YIN-HSIU CHIEN ; Tang N.L.; Law L.K.; Lin C.Y.; Lee N.C.Journal of inherited metabolic disease12
1902007The design and implementation of a next generation information system for newborn screeningTu C.-M.; Tang M.-Y.; Chang H.-Y.; Hwu W.-L.; YIN-HSIU CHIEN ; Lai F.HEALTHCOM 2007: Ubiquitous Health in Aging Societies - 2007 9th International Conference on e-Health Networking, Application and Services0
1912007A review of treatment of pompe disease in infantsYIN-HSIU CHIEN ; Hwu W.-L.Biologics: Targets and Therapy
1922007Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.YIN-HSIU CHIEN ; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.Journal of inherited metabolic disease36
1932007Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in TaiwanLee W.-I.; Yang C.-Y.; Jaing T.-H.; Huang J.-L.; YIN-HSIU CHIEN ; Chang K.-W.International Archives of Allergy and Immunology8
1942007Identification and management of cardiac perforation from a double lumen catheter in an infant [6]Wang C.-C.; Chen Y.-W.; Wu E.-T.; YIN-HSIU CHIEN ; Hwu W.-L.; Ko W.-J.; Huang S.-C.Paediatric Anaesthesia2
1952006Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyLee N.-C.; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.Journal of Inherited Metabolic Disease12
1962006De novo mutation in the BTK of atypical X-linked agammaglobulinemia in a patient with recurrent pyodermaLin M.-T.; YIN-HSIU CHIEN ; Shyur S.-D.; Huang L.-H.; Chiang Y.-C.; Wen D.-C.; Liang P.-H.; Yang H.-C.Annals of Allergy, Asthma and Immunology8
1972006Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiologyJou S.-T.; YIN-HSIU CHIEN ; Yang Y.-H.; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; Chiang B.-L.International Journal of Immunogenetics37
1982006Brain development in infantile-onset pompe disease treated by enzyme replacement therapyYIN-HSIU CHIEN ; Lee N.-C.; Peng S.-F.; Hwu W.-L.Pediatric Research53
1992006Tandem mass neonatal screening in Taiwan - Report from one centerHuang H.-P.; Chu K.-L.; YIN-HSIU CHIEN ; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L.Journal of the Formosan Medical Association20
2002005Spectrum of hypermethioninemia in neonatal screeningYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Hwu W.-L.Early Human Development22
2012005KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L.Molecular Vision16
2022005Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolismHuang H.-P.; YIN-HSIU CHIEN ; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.Journal of the Formosan Medical Association11
2032005Plasma chitotriosidase activity and malaria (multiple letters)YIN-HSIU CHIEN ; Chen J.-H.; Hwu W.-L.; Musumeci S.Clinica Chimica Acta17
2042005Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case reportMa Y.-C.; Shyur S.-D.; Ho T.-Y.; Huang L.-H.; Wu J.-Y.; Liang D.-C.; YIN-HSIU CHIEN Journal of Microbiology, Immunology and Infection0
2052004Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]Hwu W.-L.; YIN-HSIU CHIEN ; Hsu C.-C.American Journal of Medical Genetics3
2062004Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphanYIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; Hwu W.-L.Journal of Child Neurology28
2072004Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatmentYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L.Acta Paediatrica Taiwanica0
2082004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.YIN-HSIU CHIEN ; Hwu W.L.; Ariga T.Human genetics0
2092004A step-wise diagnosis of fragile X syndrome in TaiwanHuang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; YIN-HSIU CHIEN ; Hwu W.-L.Acta Paediatrica Taiwanica0
2102004Carbohydrate deficient glycoprotein syndrome type IAChu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L.Journal of the Formosan Medical Association2
2112004Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L.Human mutation0
2122004Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessmentPeng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN ; Hwu W.-L.; Liu H.-M.American Journal of Neuroradiology22
2132004Molecular diagnosis of Wiskott-Aldrich syndrome in TaiwanYIN-HSIU CHIEN ; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L.Journal of Microbiology, Immunology and Infection0
2142004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.YIN-HSIU CHIEN ; Hwu W.L.; Ariga T.Human genetics0
2152004Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature reviewChu S.-Y.; Tsai W.-Y.; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; Hwu W.-L.Tzu Chi Medical Journal
2162004Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.YIN-HSIU CHIEN ; Hwu W.L.Human genetics0
2172004Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one caseHwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y.Acta Paediatrica Taiwanica0
2182004Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysisSu Y.-N.; Lee C.-N.; Chien S.-C.; Hung C.-C.; YIN-HSIU CHIEN ; Chen C.-A.Journal of Human Genetics9
2192003肝醣儲積症Ia型的診斷與治療YIN-HSIU CHIEN Acta Paediatrica Taiwanica 
2202003Living-related liver transplantation for methylmalonic acidemia: Report of one caseHsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; Hwu W.-L.Acta Paediatrica Taiwanica0
2212003Gene symbol: Btk: Disease: Bruton agammaglobulinemiaYIN-HSIU CHIEN Human Genetics0
2222003Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblingsYIN-HSIU CHIEN ; Yang Y.-H.; Hwu W.-L.; Chou C.-C.; Chiang B.-L.Journal of Microbiology, Immunology and Infection0
2232003Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testingHwu W.-L.; YIN-HSIU CHIEN ; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.Journal of the Formosan Medical Association4
2242003Association between levels of TNF-α and TNF-α promoter - 308 A/A polymorphism in children with kawasaki diseaseYIN-HSIU CHIEN ; Chang K.-W.; Yang Y.-H.; Lu M.-Y.; Lin Y.-T.; Chiang B.-L.Journal of the Formosan Medical Association26
2252003Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiencyHwu W.-L.; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.Human Genetics0
2262003Phenotype and genotype analyses of ornithine transcarbamylase deficiency in TaiwaneseHuang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lin S.-J.; Lu F.L.; Chou S.-P.; Lin J.-M.; Chiang S.-H.; Hwu W.-L.Journal of the Formosan Medical Association1
2272003Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiencyHwu W.-L.; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.Human Genetics0
2282002DiGeorge sequence with hypogammaglobulinemia: A case reportYIN-HSIU CHIEN ; Yang Y.-H.; Chu S.-Y.; Hwu W.-L.; Kuo P.-L.; Chiang B.-L.Journal of Microbiology, Immunology and Infection0
2292002Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot studyChu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; Hwu W.-L.Journal of the Formosan Medical Association11
2302002Cockayne syndrome in a familyYIN-HSIU CHIEN ; Chou H.-C.; Hwu W.-L.Acta Paediatrica Taiwanica0
2312002Cranial MR spectroscopy of tetrahydrobiopterin deficiencyYIN-HSIU CHIEN ; Peng S.-F.; Wang T.-R.; Hwu W.-L.American Journal of Neuroradiology8
2322002Pamidronate treatment of severe osteogenesis imperfecta in a newborn infantYIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; Hwu W.-L.Journal of Inherited Metabolic Disease14
2332002Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in TaiwanChu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; Hwu W.-L.Acta Paediatrica Taiwanica0
2342002An infant with heart murmur and dysmorphic faceYIN-HSIU CHIEN ; Kuo P.-L.; Hwu W.-L.Acta Paediatrica Taiwanica0
2352002Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher diseaseHsu C.-C.; YIN-HSIU CHIEN ; Lai M.-Y.; Hwu W.-L.Journal of the Formosan Medical Association6
2362002Rehospitalization of extremely-low-birth-weight infants in first 2 years of lifeYIN-HSIU CHIEN ; Tsao P.-N.; Chou H.-C.; Tang J.-R.; Tsou K.-I.Early Human Development32
2372001Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutationsYIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.Journal of Inherited Metabolic Disease20
2382000Congenital intracranial teratomaYIN-HSIU CHIEN ; Tsao P.-N.; Lee W.-T.; Peng S.-F.; Tsou Yau K.-I.Pediatric Neurology35
2392000Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host diseaseYIN-HSIU CHIEN ; Lin K.-H.; Lee T.-Y.; Lu M.-Y.; Tsau Y.-K.Journal of the Formosan Medical Association24
2401999Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one caseYIN-HSIU CHIEN ; Lee P.-I.; Huang L.-M.; Lee C.-Y.; Lin D.-T.; Lin K.-H.Acta Paediatrica Taiwanica0