| 國立臺灣大學 |
2002 |
Clinical, 18f-Dopa Pet, and Genetic Analysis of an Ethnic Chinese Kindred with Early-Onset Parkinsonism and Parkin Gene Mutations
|
吳瑞美; 胡務亮; WU, RUEY-MEEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Enzyme Replacement Therapy with Imiglucerase in Taiwanese Patients with Type I Gaucher Disease
|
許嘉琪; 簡穎秀; 賴明陽; 胡務亮; HSU, CHIA-CHI; CHIEN, YIN-HSIU; LAI, MING-YANG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Cockayne Syndrome in a Family
|
簡穎秀; 周弘傑; 胡務亮; CHIEN, YIN-HSIU; CHOU, HUNG-CHIEH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Screening of Mitochondrial DNA Mutation in Subjects with Non-Syndromic Familial Hearing Impairment in Taiwan
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
An Infant with Heart Murmur and Dysmorphic Face
|
簡穎秀; 郭保麟; 胡務亮; CHIEN, YIN-HSIU; KUO, PAO-LIN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Cranial Mr Spectroscopy of Tetrahydrobiopterin Deficiency
|
簡穎秀; 彭信逢; 胡務亮; CHIEN, YIN-HSIU; PENG, SHINN-FORNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Digeorge Sequence with Hypogammaglobulinemia: A Case Report
|
簡穎秀; 楊曜旭; 朱紹盈; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; YANG, YAO-HSU; CHU, SHAO-YIN; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2001 |
Epileptic Seizures and Electroencephalographic Evolution in Genetic Leukodystrophies
|
王本榮; 胡務亮; 沈友仁; WANG, PEN-JUNG; HWU, WUH-LIANG; SHEN, YU- ZEN |
| 國立臺灣大學 |
2001 |
A Chinese Adult Onset Type Ii Citrullinaemia Patient with 851del4/1638ins 23 Mutations in the Slc25a13 Gene
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2001 |
Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2001 |
Mri in a Case of Adult-Onset Citrullinemia
|
廖漢文; 胡務亮; LIU, HON-MAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2001 |
Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency
|
Binzak, Barbara A.; Wevers, Ron A.; Moolenaar, Sytske H.; Lee, Yu-May; Hwu, Wuh-Liang; Poggi-Bach, Jo; Engelke, Udo F.H.; Hoard, Heidi M.; Vockley, Joseph G.; Vockley, Jerry |
| 國立臺灣大學 |
2001 |
Treatment and Outcome of Taiwanese Patients with 6- Pyruvoyltetrahydropterin Synthase Gene Mutations
|
簡穎秀; 王作仁; 胡務亮; CHIEN, YIN-HSIU; WANG, TSO-REN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2000 |
Dopa-Responsive Dystonia Is Induced by a Dominant-Negative Mechanism
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2000 |
Congenital Contractural Arachnodactyly (Beals Syndrome)
|
胡務亮; HWU, WUH-LIANG |
| 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 |
