公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 39 | 38 | |
2021 | Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios | SHIN-YU LIN ; GWO-TSANN CHUANG ; Hung C.-H.; WEI-CHOU LIN ; YUNG-MING JENG ; TING-AN YEN ; Chang K.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIEN-NAN LEE ; I-JUNG TSAI ; NI-CHUNG LEE | Frontiers in Genetics | 1 | 1 | |
2007 | Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease | Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU ; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN ; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E. | Neurology | 656 | 583 | |
2019 | Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) | Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M. | Molecular Genetics and Metabolism | 48 | 41 | |
2022 | Reduced Immunogenicity of Intraparenchymal Delivery of Adeno-Associated Virus Serotype 2 Vectors: Brief Overview | WUH-LIANG HWU ; Muramatsu, Shin-Ichi; Gidoni-Ben-Zeev, Bruria | Current gene therapy | 2 | 2 | |
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 | |
2008 | Reflection on the Practice and Ethics of Genetic Testing and Counseling in Taiwan | Fu-Chang Tsai; WUH-LIANG HWU ; Chin-Ning Chang; Chih-Chao Yang | 醫學教育 | 0 | ||
2003 | Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells | WUH-LIANG HWU ; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M. | Biochemical and Biophysical Research Communications | 13 | 11 | |
2013 | Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency | NI-CHUNG LEE ; Shieh Y.-D.; YIN-HSIU CHIEN ; KAI-YUAN TZEN ; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; WUH-LIANG HWU | Neurobiology of Disease | 33 | 30 | |
2019 | Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses | Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P. | Diagnostics | 12 | 11 | |
2011 | A reliable password-based user authentication scheme for web-based human genome database system | Chen W.-H.; Wu Z.-Y.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | IEEE International Conference on Digital Ecosystems and Technologies | 0 | 0 | |
2020 | REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample | NI-CHUNG LEE ; WEI-CHUNG HSU ; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG HWU ; PEI-LIN LEE | Journal of the Formosan Medical Association | 14 | 14 | |
2019 | Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments | Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 9 | 7 | |
2018 | Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center | Lin C.-J.; YIN-HSIU CHIEN ; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU ; Wu C.-J. | Kidney and Blood Pressure Research | 22 | 19 | |
2006 | A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Kishnani P.S.; WUH-LIANG HWU ; Mandel H.; Nicolino M.; Yong F.; Corzo D. | Journal of Pediatrics | 496 | 428 | |
2009 | Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease | Chen L.-R.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; MING-TAI LIN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Journal of Pediatrics | 54 | 42 | |
2019 | A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 13 | 9 | |
2017 | A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Neurology and Therapy | 17 | 0 | |
2007 | A review of treatment of pompe disease in infants | YIN-HSIU CHIEN ; WUH-LIANG HWU | Biologics: Targets and Therapy | 13 | ||
2005 | Reye's syndrome developing in an infant on treatment of Kawasaki syndrome | Wei C.-M.; HUEY-LING CHEN ; PING-ING LEE ; Chen C.-M.; Ma C.-Y.; WUH-LIANG HWU | Journal of Paediatrics and Child Health | 27 | 17 |