Results 1-16 of 16 (Search time: 0.016 seconds).
Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link | |
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1 | 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 | |
2 | 2020 | Survival 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.; 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 Diseases | 16 | 13 | |
3 | 2019 | Congenital generalized lipodystrophy in Taiwan | Hsu 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 ; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 11 | 8 | |
4 | 2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 2 | 2 | |
5 | 2017 | Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. | Molecular Genetics and Metabolism Reports | 9 | 8 | |
6 | 2017 | Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease | Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Chen Y.-T.; Wu J.-Y. | Molecular Genetics and Metabolism | 8 | 7 | |
7 | 2016 | Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme | STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN | Orphanet Journal of Rare Diseases | 17 | 19 | |
8 | 2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | YIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; 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 Metabolism | 51 | 42 | |
9 | 2014 | Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Muscle and Nerve | 6 | 6 | |
10 | 2014 | Outcome of early-treated type III Gaucher disease patients | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU | Blood Cells, Molecules, and Diseases | 22 | 18 | |
11 | 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 | |
12 | 2011 | Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Journal of Pediatrics | 84 | 70 | |
13 | 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 | |
14 | 2010 | Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 2 | 2 | |
15 | 2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
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 |