公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2020 | Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences | YIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 28 | 26 | |
2008 | Early detection of glutaric aciduria type I by newborn screening in Taiwan | Hsieh C.-T.; WUH-LIANG HWU ; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN | Journal of the Formosan Medical Association | 24 | 16 | |
2008 | Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program | YIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; CHUN-AN CHEN ; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 207 | 178 | |
2020 | Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant | Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU ; Wang P.-J.; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 7 | 5 | |
2012 | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU | Pediatric Neurology | 20 | 16 | |
2017 | Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial | YIN-HSIU CHIEN ; NI-CHUNG LEE ; SHENG-HONG TSENG ; CHUN-HWEI TAI ; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU | The Lancet Child and Adolescent Health | 95 | 88 | |
2023 | Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial | Kishnani, Priya S; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R; Ladha, Shafeeq; Berger, Kenneth I; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; YIN-HSIU CHIEN ; Choi, Young-Chul; Day, John W; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt | JAMA neurology | 6 | 7 | |
2014 | Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism | I-JUNG TSAI ; WUH-LIANG HWU ; SHU-CHIEN HUANG ; NI-CHUNG LEE ; EN-TING WU ; YIN-HSIU CHIEN ; Tsau Y.-K. | Pediatric Nephrology | 14 | 13 | |
2019 | Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency | Ho S.-Y.; YIN-HSIU CHIEN ; LI-KAI TSAI ; Muramatsu S.-I.; WUH-LIANG HWU ; HORNG-HUEI LIOU ; NI-CHUNG LEE | Frontiers in Cellular Neuroscience | 2 | 2 | |
2011 | Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease | YIN-HSIU CHIEN ; Olivova P.; Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE ; Keutzer J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 10 | 9 | |
2022 | Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome | Lin, Han-Yi; Tsai, Wen-Yu; YI-CHING TUNG ; SHIH-YAO LIU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHENG-TING LEE | Frontiers in endocrinology | 3 | 2 | |
2012 | Enhanced interpretation of newborn screening results without analyte cutoff values | Marquardt 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 ; 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 Medicine | 109 | 97 | |
2010 | Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia | Fern?ndez-Irigoyen J.; Santamar?a E.; YIN-HSIU CHIEN ; 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 Metabolism | 27 | 27 | |
2010 | Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 19 | 15 | |
2002 | Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease | Hsu C.-C.; YIN-HSIU CHIEN ; Lai M.-Y.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 7 | 6 | |
2013 | Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 0 | 1 | |
2013 | The Ethical Issues and National Policy in Population-based Genetic Screening | DANIEL FU-CHANG TSAI ; Chung L.-Y.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Formosan Journal of Medicine | 0 | 0 | |
2024 | Ethnically unique disease burden and limitations of current expanded carrier screening panels | CHIH-LING CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung, Miao-Zi; Lin, Yi-Lin; SHIN-YU LIN ; CHIEN-NAN LEE | International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics | 0 | 0 | |
2023 | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | Hsu, Yu-Kang; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; Po-Yu Huang, Eric; WEN-CHIN WENG | Genetics in medicine : official journal of the American College of Medical Genetics | 6 | 4 | |
2019 | Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD | Journal of Inherited Metabolic Disease | 33 | 21 | |