公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2022 | Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease | Li, Huang-Yi; NI-CHUNG LEE ; Chiu, Yu-Ting; Chang, Yu-Wen; Lin, Chu-Chung; Chou, Cheng-Li; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Cheng, Wei-Chieh | Bioorganic & medicinal chemistry | 2 | 0 | |
2006 | Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants | Yeh J.-N.; YUNG-MING JENG ; HUEY-LING CHEN ; YEN-HSUAN NI ; WUH-LIANG HWU ; MEI-HWEI CHANG | Journal of Pediatrics | 41 | 28 | |
1996 | Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. | Tsai S.Y.; YUNG-MING JENG ; WUH-LIANG HWU ; YEN-HSUAN NI ; MEI-HWEI CHANG ; Wang T.R. | Journal of the Formosan Medical Association = Taiwan yi zhi | 8 | 3 | |
2000 | Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case | Yang T.-Y.; HUEY-LING CHEN ; YEN-HSUAN NI ; WUH-LIANG HWU ; MEI-HWEI CHANG | Acta Paediatrica Taiwanica | 6 | 0 | |
1994 | Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan | Wang P.-J.; Ko Y.-M.; Young C.; WUH-LIANG HWU ; Shen Y.-Z. | Brain and Development | 8 | 9 | |
1989 | Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. | WUH-LIANG HWU ; Wang P.J.; Shen Y.Z. | Acta Paediatrica Sinica | 2 | 0 | |
2019 | Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population | Chen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | Brain and Behavior | 10 | 7 | |
2019 | High incidence of co-existing GLA variants and stroke susceptibility | YIN-HSIU CHIEN ; WUH-LIANG HWU | European Journal of Neurology | 0 | 0 | |
2022 | High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan | HUI-AN CHEN ; Hsu, Rai-Hseng; Chen, Pin-Wen; NI-CHUNG LEE ; Chiu P.-C.; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | 7 | 4 | |
2006 | Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma | Tsai C.-W.; Chih-Chao Yang ; HUEY-LING CHEN ; WUH-LIANG HWU ; MU-ZON WU ; KAO-LANG LIU ; MING-SHIANG WU | Journal of the Formosan Medical Association | 30 | 27 | |
2010 | How 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 Acta | 93 | 86 | |
2008 | Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein | Chiou Y.-W.; WUH-LIANG HWU ; Lee Y.-M. | Biochimica et Biophysica Acta - Molecular Basis of Disease | 2 | 2 | |
2007 | Human gene mutations. Gene symbol: GLA. Disease: Fabry disease. | Lin W.D.; WUH-LIANG HWU ; Liu S.C.; Chen C.P.; Tsai F.J. | Human genetics | 3 | 0 | |
2011 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification | HSIANG-PO HUANG ; Chen P.-H.; WUH-LIANG HWU ; Chuang C.-Y.; YIN-HSIU CHIEN ; Stone L.; CHUNG-LIANG CHIEN ; Li L.-T.; Chiang S.-C.; HSIN-FU CHEN ; HONG-NERNG HO ; Chen C.-H.; Kuo H.-C. | Human Molecular Genetics | 111 | 105 | |
1998 | Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population | Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU ; Day K.-R.; Wang C.-K. | Journal of the Formosan Medical Association | 2 | 2 | |
2009 | Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report | Lin L.-C.; WUH-LIANG HWU ; Yang R.-C. | Pediatrics International | 0 | 0 | |
1999 | Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations | WUH-LIANG HWU ; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG ; Wen W.-H.; Wang T.-R. | Journal of Inherited Metabolic Disease | 8 | 5 | |
2014 | Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype | Lee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN ; WUH-LIANG HWU | JIMD Reports | 30 | 0 | |
2016 | Hypothermia improves disease manifestations in SMA mice via SMN augmentation | LI-KAI TSAI ; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN ; Lee N.-C.; WUH-LIANG HWU | Human Molecular Genetics | 4 | 4 | |
2000 | Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S | Teng Y.N.; Wang T.R.; WUH-LIANG HWU ; Lin S.P.; Lee-Chen G.J. | Clinical Genetics | 21 | 18 |