| 國立臺灣大學 |
2003 |
A Founder Mutation (R254x) of Slc22a5 (Octn2) in Chinese Primary Carnitine Deficiency Patients
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Debate in Newborn Screening for Metabolic Disorders in Taiwan--a Voluntary Screening? Mandatory Screening? Or Both?
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early Testing
|
胡務亮; 簡穎秀; 梁昭鉉; 李旺祚; 王本榮; 蔡文友; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LIANG, CHAO-HSUAN; LEE, WANG-TSO; WANG, PEN-JUNG; TSAI, WEN-YU |
| 國立臺灣大學 |
2003 |
Living-Related Liver Transplantation for Methylmalonic Acidemia: Report of One Case.
|
許瑞育; 簡穎秀; 朱紹盈; 呂立; 陳慧玲; 何明志; 李伯皇; 胡務亮; HSUI, JUI-YU; CHIEN, YIN-HSIU; CHU, SHAO-YIN; LU, FRANK L; CHEN, HUEY-LING; HO, MING-CHIH; LEE, PO-HUANG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese
|
黃淵德; 簡穎秀; 葉慧英; 林秀娟; 呂立; 周西平; 林京美; 蔣書娟; 胡務亮; HUANG, YUAN-TE; CHIEN, YIN-HSIU; YEH, HUI-YING; LIN, SHIO-JEAN; LU, FRANK L; CHOU, SHI-PING; LIN, JING-MEEI; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Pamidronate Treatment of Severe Osteogenesis Imperfecta in a Newborn Infant
|
簡穎秀; 朱紹盈; 許嘉琪; 胡務亮; CHIEN, YIN-HSIU; CHU, SHAO-YIN; HSU, CHIA-CHI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Common Variable Immunodeficiency with Hypoglycemia, Kikuchi Lymphadenitis , and Hemiparesis in Two Siblings
|
簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2002 |
Mucopolysaccharidosis Type I in Taiwan
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Neonatal Screening for Congenital Adrenal Hyperplasia in Taiwan: A Pilot Study
|
朱紹盈; 蔡文友; 陳麗新; 魏明麗; 簡穎秀; 胡務亮; CHU, SHAO-YIN; TSAI, WEN-YU; CHEN, LI- HSIN; WEI, MING-LEE; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Spontaneous Chylothorax in a Case of Cardio-Facio-Cutaneous Syndrome
|
詹珮君; 邱顯清; 胡務亮; CHAN, PEI-CHUN; CHIU, HSIEN-CHING; HWU, WUH-LIANG |
| 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 |
