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 | |
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 | |
2012 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification (vol 20, pg 4851, 2011) | HSIANG-PO HUANG ; Chen, PH; WUH-LIANG HWU; Chuang, CY; YIN-HSIU CHIEN ; Stone, L; CHUNG-LIANG CHIEN ; Li, LT; Chiang, SC; HSIN-FU CHEN ; HONG-NERNG HO ; Chen, CH; Kuo, HC | HUMAN MOLECULAR GENETICS | 0 | 0 | |
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 | |
2007 | Identification and management of cardiac perforation from a double lumen catheter in an infant [6] | CHING-CHIA WANG ; Chen Y.-W.; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ko W.-J.; SHU-CHIEN HUANG | Paediatric Anaesthesia | 3 | 2 | |
2009 | Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study | Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN ; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M. | Human Mutation | 59 | 47 | |
2006 | Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiology | SHIANN-TANG JOU ; YIN-HSIU CHIEN ; YAO-HSU YANG ; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; BOR-LUEN CHIANG | International Journal of Immunogenetics | 43 | 41 | |
2022 | Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium | Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A; YIN-HSIU CHIEN ; Cortès-Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C; Wagenmakers, Margreet; Garbade, Sven F; Kölker, Stefan; Boy, Nikolas | Journal of inherited metabolic disease | 6 | 6 | |
2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
2015 | Incidence of severe combined immunodeficiency through newborn screening in a Chinese population | YIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU ; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 56 | 37 | |
2002 | An infant with heart murmur and dysmorphic face | YIN-HSIU CHIEN ; Kuo P.-L.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 1 | 0 | |
2022 | Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency | Yverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN ; Huemer M.; Ješina P.; Janssen M.C.H.; Kölker S.; Kožich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; E-HOD Consortium | Journal of Inherited Metabolic Disease | 7 | 5 | |
2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
2012 | Integrating human genome database into electronic health record with sequence alignment and compression mechanism | Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of Medical Systems | 6 | 5 | |
2019 | International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria | Muntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN ; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K. | Molecular Genetics and Metabolism | 41 | 31 | |