公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2019 | GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry | Reuser 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 Sites | Human Mutation | 53 | 40 | |
2003 | Gene symbol: Btk: Disease: Bruton agammaglobulinemia | YIN-HSIU CHIEN | Human Genetics | 0 | 0 | |
2003 | Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency | WUH-LIANG HWU ; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C. | Human Genetics | 3 | 0 | |
2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 0 | 0 | |
2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 1 | 0 | |
2024 | Gene therapy corrects the neurological deficits of mice with sialidosis | WUH-LIANG HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN | Gene therapy | | | |
2012 | Gene therapy for aromatic L-amino acid decarboxylase deficiency | WUH-LIANG HWU ; Muramatsu S.-I.; SHENG-HONG TSENG ; KAI-YUAN TZEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI ; RUEY-MEEI WU | Science Translational Medicine | 188 | 170 | |
2019 | Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency | Tseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU | Annals of Neurology | 20 | 18 | |
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 | |
2010 | Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program | Labrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 92 | 79 | |
2007 | The genetics of atopic dermatitis | YIN-HSIU CHIEN ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Clinical Reviews in Allergy and Immunology | 29 | 25 | |
2019 | Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE | Orphanet Journal of Rare Diseases | 16 | 14 | |
2018 | Gestational age, not transient hyperthyrotropinemia impacts brain white matter diffusion tensor imaging in premature infants | Hung 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 Medicine | 1 | 1 | |
2009 | Glycogen Storage Disease Type Ib: The First Case in Taiwan | Hsiao H.-J.; HSIU-HAO CHANG ; WUH-LIANG HWU ; Lam C.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Pediatrics and Neonatology | 4 | 3 | |
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 | |
2022 | Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy | Tang, Ya-Chun; Tsui, Po-Hsiang; Wang, Chiao-Yin; Chien, Yin-Hsiu; YIN-HSIU CHIEN ; Yang, Chung-Yi; WEN-CHIN WENG | Nutrients | 3 | 4 | |
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 | |
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 | |