第 1 到 17 筆結果,共 17 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2020 | Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU | Orphanet Journal of Rare Diseases | 38 | 38 | |
2 | 2020 | Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan | Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chuang C.-K.; MEI-HWAN WU ; JOU-KOU WANG ; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. | American Journal of Medical Genetics, Part A | 7 | 7 | |
3 | 2020 | Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant | Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU ; Wang P.-J.; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 7 | 5 | |
4 | 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 | |
5 | 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 | |
6 | 2015 | Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation | Hsiue H.-C.; NI-CHUNG LEE ; Tsai H.-B.; Yang C.-C.; Wu C.-S.; WANG-TSO LEE ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE | Intensive Care Medicine | 1 | 1 | |
7 | 2012 | Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life? | Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU ; Chu S.-Y. | Tzu Chi Medical Journal | 0 | 0 | |
8 | 2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 56 | 51 | |
9 | 2004 | Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case | WUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y. | Acta Paediatrica Taiwanica | 3 | 0 | |
10 | 2004 | Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review | Chu S.-Y.; WEN-YU TSAI ; YIN-HSIU CHIEN ; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU | Tzu Chi Medical Journal | 1 | ||
11 | 2003 | Living-related liver transplantation for methylmalonic acidemia: Report of one case | Hsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; FRANK LEIGH LU ; HUEY-LING CHEN ; Ho M.-J.; PO-HUANG LEE ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 24 | 0 | |
12 | 2003 | Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case | Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
13 | 2002 | Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan | Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
14 | 2002 | Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant | YIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 15 | 14 | |
15 | 2002 | DiGeorge sequence with hypogammaglobulinemia: A case report | YIN-HSIU CHIEN ; YAO-HSU YANG ; Chu S.-Y.; WUH-LIANG HWU ; Kuo P.-L.; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 6 | 0 | |
16 | 2002 | Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study | Chu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 18 | 14 | |
17 | 2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 20 |