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Showing items 286-295 of 326  (33 Page(s) Totally)
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Institution Date Title Author
國立臺灣大學 2000 Carnitine Transporter Defect Presenting with Hyperammonemia, Report of One Case 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2000 Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S 王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學 1999 Molecular Diagnosis of Apert Syndrome in Chinese Patients 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Dopa-Responsive Dystonia Induced by a Recessive Gtp Cyclohydrolase I 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Millington Ds (1999) 3-Hydroxy-3-Methylglutaric Aciduria Presenting with Reye Like Syndrome: Report of One Case 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Hypercalcaemia in Glycogen Storage Disease Type Ia : A Case with R83h and 341delg Mutations 胡務亮; 張美惠; HWU, WUH-LIANG; CHANG, MEI-HWEI
國立臺灣大學 1999 Allele Distribution at the Fmr1 Locus in the General Chinese Population 王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學 1999 Niemann-Pick Disease Type C (a Cellular Cholesterol Lipidosis) Treated by Bone Marrow Transplantation 徐玉山; 胡務亮; 盧孟佑; 陳榮隆; 林東燦; 彭信逢; 林凱信; HSU, Y-S; HWU, WUH-LIANG; LU, MENG-YAO; CHEN, RONG-LONG; LIN, DONG-TSAMN; PENG, SHINN-FORNG; LIN, KAI-HSIN
國立臺灣大學 1999 Homozygous 341delg/101x of Gulcose-6-Phosphatase(G6pt) Gene Causes Glycogen Storage Disease Type Ia (Von Gierke Disease) in a Chinese Patient 柯滄銘; 胡務亮; KO, TSANG-MING; HWU, WUH-LIANG
國立臺灣大學 1999 Molecular Genetic Study of Pompe Disease in Chinese Patients in Taiwan 柯滄銘; 胡務亮; 林玉婉; 曾麗慧; 華筱玲; 王作仁; 莊壽洺; KO, TSANG-MING; HWU, WUH-LIANG; LIN, YU-WAN; TSENG, LI-HUI; HWA, HSIAO-LIN; WANG, TSO-REN; CHUANG, SOU-MING

Showing items 286-295 of 326  (33 Page(s) Totally)
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