公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia | NI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 18 | 16 | |
1996 | Camptomelic dysplasia: report of one case | PO-NIEN TSAO ; Teng, R. J.; WUH-LIANG HWU ; Tsou Yau, K. I.; Wang, T. R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | | | |
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 | |
2004 | Carbohydrate deficient glycoprotein syndrome type IA | Chu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 3 | 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 | |
2016 | Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; WUH-LIANG HWU ; Lin, Ju-Li; SHAU-PING LIN | Molecular Genetics and Metabolism | 33 | 32 | |
1993 | Cardiovascular disorders in Turner's syndrome and its correlation to karyotype. | Hou J.W.; WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang T.R.; HUNG-CHI LUE | Journal of the Formosan Medical Association = Taiwan yi zhi | 22 | 0 | |
2000 | Carnitine transport defect presenting with hyperammonemia: Report of one case | WUH-LIANG HWU ; Chiang S.-C.; MEI-HWEI CHANG ; Wang T.-R. | Acta Paediatrica Taiwanica | 8 | 0 | |
2013 | Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation | Chen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Human Mutation | 13 | 12 | |
2016 | Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 22 | 24 | |
2010 | CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency | Chang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 17 | 15 | |
2011 | Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease | STEVEN SHINN-FORNG PENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU ; WEN-YIH TSENG | Biomedical Engineering - Applications, Basis and Communications | 1 | 1 | |
2008 | Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU | Southeast Asian Journal of Tropical Medicine and Public Health | 8 | 0 | |
2023 | Changing clinical manifestations of Gaucher disease in Taiwan | Lu, Wen-Li; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG HWU ; Chou, Yen-Yin; Chu, Shao-Yin; MENG-JU LI ; Lee, An-Ju; Liao, Chao-Chuan; Wang, Chung-Hsing; NI-CHUNG LEE | Orphanet journal of rare diseases | 0 | 0 | |
2020 | Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in Taiwan | Chang H.-Y.; WUH-LIANG HWU ; Chen C.-H.; Hou C.-Y.; Cheng W. | Frontiers in Pediatrics | 14 | 12 | |
2001 | A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene. | WUH-LIANG HWU ; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H. | Journal of medical genetics | 22 | 0 | |
2008 | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | Chen H.-W.; HUEY-LING CHEN ; YEN-HSUAN NI ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG | Journal of Pediatric Gastroenterology and Nutrition | 21 | 10 | |
2010 | Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency | Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU ; WANG-TSO LEE ; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. | Neurology | 189 | 149 | |
2022 | Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience | Cho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; Huang, Shu-Yuan; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YI-CHING TUNG | Journal of the Formosan Medical Association | 9 | 7 | |
2013 | Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin | Wang J.; Cui H.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W. | Genetics in Medicine | 64 | 47 | |