| 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 |
| 國立臺灣大學 |
1999 |
Allele distribution at the FMR1 locus in the general Chinese population
|
Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang |
| 國立臺灣大學 |
1999 |
Neonatal type of nonketotic hyperglycinemia
|
呂立; 王本榮; 胡務亮; 鄒國英; 王作仁; LU, FRANK L; WANG, PEN-JUNG; HWU, WUH-LIANG; YAU KOU-INN, TSOU; WANG, TSO-REN |
| 國立臺灣大學 |
1998 |
Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
1998 |
Linkage Disequilibrium and Linkage Analysis of the Glucose-6-Phosphatase Gene
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
1998 |
The Controversy Regaring Criteria for Early Myoclonic Encephalopathy
|
王本榮; 胡務亮; 楊千立; 鄒國英; 沈友仁; 李旺祚; WANG, PEN-JUNG; HWU, WUH-LIANG; YOUNG, CHAINLLIE; YAU, KOU-INN, TSOU; SHEN, YU-ZEN; LEE, WANG-TSO |
