第 1 到 24 筆結果,共 24 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 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 | |
2 | 2002 | Cranial MR spectroscopy of tetrahydrobiopterin deficiency | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Wang T.-R.; WUH-LIANG HWU | American Journal of Neuroradiology | 11 | 9 | |
3 | 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 | |
4 | 2000 | Congenital contractural arachnodactyly (Beals syndrome) | Su P.-H.; Hou J.-W.; WUH-LIANG HWU ; MEI-HWAN WU ; JOU-KOU WANG ; Wang T.-R. | Acta Paediatrica Taiwanica | 13 | 0 | |
5 | 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 | |
6 | 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 | |
7 | 1999 | Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.- M.; Hayashi K. | Human Mutation | 0 | ||
8 | 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 | |
9 | 1999 | 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case | Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S. | Acta Paediatrica Taiwanica | 3 | 0 | |
10 | 1999 | Neonatal type of nonketotic hyperglycinemia | FRANK LEIGH LU ; Wang P.-J.; WUH-LIANG HWU ; Tsou Yau K.-I.; Wang T.-R. | Pediatric Neurology | 38 | 27 | |
11 | 1999 | Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation | WUH-LIANG HWU ; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M. | Human Genetics | 35 | 28 | |
12 | 1999 | Molecular genetic study of Pompe disease in Chinese patients in Taiwan | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.-M. | Human Mutation | 64 | ||
13 | 1999 | Allele distribution at the FMR1 locus in the general Chinese population | Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU | Clinical Genetics | 19 | 14 | |
14 | 1998 | Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population | Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU ; Day K.-R.; Wang C.-K. | Journal of the Formosan Medical Association | 2 | 2 | |
15 | 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 | |
16 | 1998 | Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome | Tsai F.-J.; WUH-LIANG HWU ; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H. | Human Mutation | 2 | 0 | |
17 | 1997 | Ornithine transcarbamylase deficiency | Yeh S.-J.; WUH-LIANG HWU ; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R. | Journal of the Formosan Medical Association | 2 | 3 | |
18 | 1997 | Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease | Wang P.-J.; WUH-LIANG HWU ; WANG-TSO LEE ; Wang T.-R.; Shen Y.-Z. | Pediatric Neurology | 32 | 27 | |
19 | 1996 | Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia | Wang T.-R.; Wang W.-P.; WUH-LIANG HWU ; Lee M.-L. | Human Mutation | 6 | ||
20 | 1996 | Arylsulfatase A pseudodeficiency in Chinese | WUH-LIANG HWU ; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R. | Human Genetics | 6 | 4 | |
21 | 1995 | Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096)) | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chang S.-M.; Wang T.-R. | Human Molecular Genetics | 1 | ||
22 | 1995 | Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chuang S.-M.; Wang T.-R. | Human Molecular Genetics | 26 | 29 | |
23 | 1994 | Cytogenetic study of mentally retarded children in Taipei | Wang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU ; Wang T.-R.; Wuu K.-D. | Journal of Biomedical Science | 1 | 0 | |
24 | 1989 | Alkaptonuria in a Chinese baby | Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 1 | 1 |