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 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 | |
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 | |
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 | |
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 | |
2021 | Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation | Su, Tzu-Hsuan; NI-CHUNG LEE ; Wu, Chao-Szu; STEVEN SHINN-FORNG PENG ; PI-CHUAN FAN | Journal of the Formosan Medical Association = Taiwan yi zhi | 0 | 0 | |
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 | |
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 | |
2018 | Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey | Mak C.C.; Leung G.K.; Mok G.T.; Yeung K.S.; Yang W.; Fung C.-W.; Chan S.H.; Lee S.-L.; NI-CHUNG LEE ; Pfundt R.; Lau Y.-L.; Chung B.H. | npj Genomic Medicine | 12 | 10 | |
2009 | Eye anomalies and neurological manifestations in patients with PAX6 mutations. | YIN-HSIU CHIEN ; HSIANG-PO HUANG ; WUH-LIANG HWU ; Chien Y.H.; Chang T.C.; NI-CHUNG LEE | Molecular vision | 26 | 19 | |
2021 | Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28 | Chen P.-S.; NI-CHUNG LEE ; Fan S.-P.; CHUN-HWEI TAI ; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; JYH-HORNG CHEN | Movement Disorders | 0 | 0 | |
2019 | Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia | JYH-MING JIMMY JUANG ; CHIA-TUNG SHUN ; YIH-SHARNG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN | Genetics in Medicine | 2 | 1 | |
2012 | Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU | Molecular medicine (Cambridge, Mass.) | 69 | 59 | |
2013 | Fatty acid oxidation disorders in a chinese population in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU | JIMD Reports | 25 | 0 | |