Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
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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 | |
2000 | Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia | Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG ; Wang T.-R.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Human Genetics | 12 | 9 | |
2006 | Heroin use among youths incarcerated for illicit drug use: Psychosocial environment, substance use history, psychiatric comorbidity, and route of administration | Chiang S.-C.; Chen S.-J.; Sun H.-J.; Chan H.-Y.; WEI J. CHEN | American Journal on Addictions | 22 | 22 | |
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 | |
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 | |
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 | 10 | 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 | |
2011 | Justifying the high prevalence of microalbuminuria for type 2 diabetic patients in Taiwan with conditional probability approach-a DEMAND II Study | Chiang S.-C.; Lee J.-K.; Chen C.-H.; LEE-MING CHUANG ; Tsan K.-W.; Sheu W.H.H.; Wu D.-A.; Wu T.-J.; Lin K.-C.; Juang J.-H.; CHIH-YUAN WANG ; Ho L.-T. | Journal of the Chinese Medical Association | 8 | 7 | |
2005 | KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 | Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU | Molecular Vision | 21 | 17 | |
2007 | Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism | CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chiang S.-C.; CHUN-HWEI TAI ; RUEY-MEEI WU | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 8 | 7 | |
2013 | Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation | YIN-HSIU CHIEN ; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 19 | 16 | |
2005 | Mapping of psoriasis to 17q terminus | WUH-LIANG HWU ; Yang C.-F.; Fann C.S.J.; Chen C.-L.; TSEN-FANG TSAI ; Chein Y.-H.; Chiang S.-C.; Chen C.-H.; Hung S.-I.; Wu J.-Y.; Chen Y.-T. | Journal of Medical Genetics | 45 | 39 | |
1998 | Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan | Su P.-H.; WUH-LIANG HWU ; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R. | Journal of the Formosan Medical Association | 1 | 1 | |
2012 | A nation-wide analysis of venous thromboembolism in 497,180 cancer patients with the development and validation of a risk-stratification scoring system | Yu Y.-B.; Gau J.-P.; Liu C.-Y.; Yang M.-H.; Chiang S.-C.; Hsu H.-C.; Hong Y.-C.; Hsiao L.-T.; Liu J.-H.; Chiou T.-J.; Chen P.-M.; TZONG-SHYUAN LEE ; Chou L.-F.; Tzeng C.-H.; Chen T.-J. | Thrombosis and Haemostasis | 89 | 89 | |
2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 27 | 24 | |
2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. | Human Mutation | 289 | 257 | |
2017 | Newborn screening for severe combined immunodeficiency in Taiwan | YIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU | International Journal of Neonatal Screening | 38 | 0 | |
2018 | Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease | Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 15 | 0 | |
2004 | Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 4 | 0 | |
2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 |