| 國立臺灣大學 |
2008 |
Prevalence of the Ivs6+4 a > T Mutation in Taiwanese Patients with Aromatic Amino Acid Decarboxylase Deficiency
|
李妮鍾; 胡務亮; 簡穎秀; 李旺祚; 黃愛珠; 吳瑞美; LEE, NI-CHUNG; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, WANG-TSO; HUANG, AI-CHU; WU, RUEY-MEEI |
| 國立臺灣大學 |
2008 |
Simultaneous Detection of Mitochondrial DNA Depletion and Single Exon Deletion in Dguok Using Array Cgh
|
李妮鍾; 胡務亮; 黃文彰; 黃張梨君; LEE, NI-CHUNG; HWU, WUH-LIANG; HUANG, WEN-CHANG; WONG, LEE-JUN C. |
| 國立臺灣大學 |
2008 |
Torsade De Pointes Ventricular Tachycardia during Elective Intubation in a Patient with Pompe Disease
|
黃柏愷; 王景甲; 邱舜南; 吳恩婷; 簡穎秀; 胡務亮; 王主科; 吳美環; HUANG, PO-KAI; WANG, CHING-CHIA; CHIU, SHUENN-NAN; WU, EN-TING; CHIEN, YIN-HSIU; HWU, WUH-LIANG; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2008 |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
|
李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 劉孜孜; 吳性慧; 陳麗珠; 徐儷文; 曾士娟; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; LIU, TZE-TZE; WU, SING-HUEI; CHEN, LI-CHU; HSU, LI-WEN; TSENG, SHIH-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Fibrous Dysplasia in a Child with Mitochondrial A8344g Mutation
|
陳思達; 范碧娟; 胡務亮; 吳美環; CHEN, SZU-TAH; FAN, PI-CHUAN; HWU, WUH-LIANG; WU, MEI-HWAN |
| 國立臺灣大學 |
2008 |
Long-Term Follow-up of a Girl with Maroteaux-Lamy Syndrome after Bone Marrow Transplantation
|
王景甲; 胡務亮; 林凱信; WANG, CHING-CHIA; HWU, WUH-LIANG; LIN, KAI-HSIN |
| 國立臺灣大學 |
2008 |
Mutation of Mitochondrial DNA G13513a Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy
|
王緖斌; 翁妏謹; 李妮鍾; 胡務亮; 范碧娟; 李旺祚; WANG, SHI-BING; WENG, WEN-CHIN; LEE, NI-CHUNG; HWU, WUH-LIANG; FAN, PI-CHUAN; LEE, WANG-TSO |
| 國立臺灣大學 |
2008 |
Mitral Annuloplasty in an Infant with Barth Syndrome and Severe Mitral Insufficiency: First Case Report and Determination of Annular Diameter
|
黃書健; 吳恩婷; 邱舜南; 胡務亮; 吳美環; 王水深; HUANG, SHU-CHIEN; WU, EN-TING; CHIU, SHUENN-NAN; HWU, WUH-LIANG; WU, MEI-HWAN; WANG, SHOEI-SHEN |
| 國立臺灣大學 |
2008 |
Blood Spot Methylmalonic Acid as a Second-Tier Test for Tandem Mass Newborn Screening with Propionylcarnitine
|
陳品妏; 簡穎秀; 胡務亮; 陳麗珠; 曾士娟; CHEN, PIN-WUN; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHEN, LI-CHU; TSENG, SHIH-CHUAN |
| 國立臺灣大學 |
2008 |
Myopathy in Gaucher Disease
|
蔡力凱; 簡穎秀; 楊智超; 胡務亮; TSAI, LI-KAI; CHIEN, YIN-HSIU; YANG, CHIH-CHAO; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Persistent Effect of Miglustat on Four Children with Niemann-Pick C Disease
|
簡穎秀; 胡務亮; 李妮鍾; 蔡力凱; 黃愛珠; 彭信逢; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LEE, NI-CHUNG; TSAI, LI-KAI; HUANG, AI-CHU; PENG, STEVEN SHINN-FORNG |
| 國立臺灣大學 |
2008 |
Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results from the Taiwan Screening Program
|
簡穎秀; 蔣書娟; 李妮鍾; 黃愛珠; 陳俊安; 吳美環; 黃佩欣; 蔡輔仁; 陳垣崇; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; LEE, NI-CHUNG; HUANG, AI-CHU; CHEN, CHUN-AN; WU, MEI-HWAN; HUANG, PEI-HSIN; TSAI, FUU-JEN; CHEN, YUAN-TSONG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Neonatal Screening for Pompe Disease: A Two-Tier Screening Test
|
胡務亮; 蔣書娟; 簡穎秀; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2007 |
Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Effects of Enzyme Replacement Therapy on Global and Regional Left Ventricular Function in Patients with Infantile Pompe Disease
|
胡務亮; 簡穎秀; 李妮鍾; 邱舜南; 林銘泰; 王主科; 吳美環; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIU, SHUENN-NAN; LIN, MING-TAI; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2007 |
Recombinant Human Acid Alpha-Glucosidase - Major Clinical Benefits in Infantile-Onset Pompe Disease
|
胡務亮; 簡穎秀; 陳垣崇; HWU, WUH-LIANG; CHIEN, YIN-HSIU; CHEN, YUAN-TSONG |
| 國立臺灣大學 |
2007 |
Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)
|
陳持平; 林炫沛; 曾岐元; 胡務亮; 陳樹人; 王偉信; CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; HWU, WUH-LIANG; CHERN, SCHU-RERN; WANG, WAY-SEEN |
| 國立臺灣大學 |
2007 |
Lsd Enzyme Assays in Dried Blood Spots - from Research to Newborn Screening
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Deficiency of the Carnitine Transporter (Octn2) with Partial N- Acetylglutamate Synthase (Nags) Deficiency
|
胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG |
| 國立臺灣大學 |
2007 |
Valproic Acid Treatment in Six Patients with Spinal Muscular Atrophy
|
蔡力凱; 楊智超; 胡務亮; 李鴻; TSAI, LI-KAI; YANG, CHIH-CHAO; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2007 |
Treatment of Niemann-Pick Disease Type C in Two Children with Miglustat: Initial Responses and Maintenance of Effects over 1 Year
|
簡穎秀; 李妮鍾; 蔡力凱; 黃愛珠; 彭信逢; 陳世杰; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; TSAI, LI-KAI; HUANG, AI-CHU; PENG, SHINN-FORNG; CHEN, SHYH-JYE; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
The Genetics of Atopic Dermatitis
|
簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2007 |
Outcome of Pulmonary and Aortic Stenosis in Williams-Beuren Syndrome in an Asian Cohort
|
王景甲; 胡務亮; 吳恩婷; 呂立; 王主科; 吳美環; WANG, CHING-CHIA; HWU, WUH-LIANG; WU, EN-TING; LU, FRANK L; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2007 |
Identification and Management of Cardiac Perforation from a Double Lumen Catheter in an Infant
|
王景甲; 陳詠瑋; 吳恩婷; 簡穎秀; 胡務亮; 柯文哲; 黃書健; WANG, CHING-CHIA; CHEN, YUNG-WEI; WU, EN-TING; CHIEN, YIN-HSIU; HWU, WUH-LIANG; KO, WEN-JE; HUANG, SHU-CHIEN |
| 國立臺灣大學 |
2007 |
Slipped Capital Femoral Epiphysis as a Complication of Growth Hormone Therapy
|
王碩郁; 童怡靖; 蔡文友; 簡穎秀; 李俊賢; 胡務亮; WANG, SHUO-YU; TUNG, YI-CHING; TSAI, WEN-YU; CHIEN, YIN-HSIU; LEE, JING-SHENG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Lack of Mutations in Spinocerebellar Ataxia Type 2 and 3 Genes in a Taiwanese (Ethnic Chinese) Cohort of Familial and Early-Onset Parkinsonism
|
林靜嫻; 胡務亮; 蔣書娟; 戴香暉; 吳瑞美; LIN, CHIN-HSIEN; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; TAI, CHUN-HWEI; WU, RUEY-MEEI |
| 國立臺灣大學 |
2007 |
A Review of Treatment of Pompe Disease in Infants
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 大葉大學 |
2006-11 |
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
|
Tsai, Li-Kai;Tsai, Ming-Shiun;Lin, Tzer-Bin;Hwu, Wuh-Liang;Li, Hung |
| 國立臺灣大學 |
2006 |
A Retrospective, Multinational, Multicenter Study on the Natural History of Infantile-Onset Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations
|
許欽木; 蔡長梅; 李正淳; 胡務亮; 蔡輔仁; HSU, CHIN-MOO; TSAI, C-H; LEE, CHENG-CHUN; HWU, WUH-LIANG; TSAI, FUU-JEN |
| 國立臺灣大學 |
2006 |
Hepatic Steatosis and Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (Niccd) in Taiwanese Infants
|
葉俊男; 鄭永銘; 陳慧玲; 倪衍玄; 胡務亮; 張美惠; YEN, JIUN-NAN; JENG, YUNG-MING; CHEN, HUEY-LING; NI, YEN-HSUAN; HWU, WUH-LIANG; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2006 |
Establishing a Standardized Therapeutic Testing Protocol for Spinal Muscular Atrophy
|
蔡力凱; 蔡明勳; 林則彬; 胡務亮; 李鴻; TSAI, LI-KAI; TSAI, MING-SHIUN; LIN, TZER-BIN; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2006 |
Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy
|
簡穎秀; 李妮鍾; 彭信逢; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; PENG, SHINN-FORNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma
|
蔡靜瑋; 楊智超; 陳慧玲; 胡務亮; 吳木榮; 劉高郎; 吳明賢; TSAI, CHING-WEI; YANG, CHIH-CHAO; CHEN, HUEY-LING; HWU, WUH-LIANG; WU, MU-ZON; LIU, KAO-LANG; WU, MING-SHIANG |
| 國立臺灣大學 |
2006 |
Time Course of Acylcarnitine Elevation in Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
|
李妮鍾; 簡穎秀; 陳慧玲; 邱寶琴; 倪衍玄; 張美惠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; CHEN, HUEY-LING; CHIOU, PAO-CHIN; NI, YEN-HSUAN; CHANG, MEI-HWEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Tandem Mass Neonatal Screening in Taiwan - Report from One Center
|
黃祥博; 朱凱麟; 簡穎秀; 魏明麗; 吳淑姿; 王曉芳; 胡務亮; HUANG, HSIANG-PO; CHU, KAI-LIN; CHIEN, YIN-HSIU; WEI, MING-LEE; WU, SHU-TZU; WANG, SHIAO-FANG; HWU, WUH-LIANG |
| 大葉大學 |
2005-12 |
Adenoviral Interneuronal Transportation after Retrograde Gene Transfer in Mice
|
Tsai, Li-Kai;Tsai, Ming-Shiun;Shyue, Song-Kun;Hwu, Wuh-Liang;Li, Hung |
| 國立臺灣大學 |
2005-11-16 |
Robust adaptive array beamforming under steering angle mismatch
|
Tsai Li-Kai; Tsai Ming-Shiun; Shyue Song-Kun; Hwu Wuh-Liang; Li Hung |
| 國立臺灣大學 |
2005 |
Spectrum of hypermethioninemia in neonatal screening
|
Chien, Yin-Hsiu; Chiang, Shu-Chuan; Huang, Aichu; Hwu, Wuh-Liang |
| 國立臺灣大學 |
2005 |
Enzyme Replacement Therapy with Recombinant Human Acid Alpha Glucosidase (Rhgaa) in Infantile Onset Pompe Disease (Iopd)
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Plasma Chitotriosidase Activity and Malaria
|
胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2005 |
Type I Gaucher Disease with Exophthalmos and Pulmonary Arteriovenous Malformation
|
胡務亮; 王主科; 簡穎秀; 陳俊安; HWU, WUH-LIANG; WANG, JOU-KOU; CHIEN, YIN-HSIU; CHEN, CHUN-AN |
| 國立臺灣大學 |
2005 |
Mapping of Psoriasis to 17q Terminus
|
胡務亮; 范盛娟; 蔡呈芳; 簡穎秀; 蔣書娟; 鄔哲源; 陳垣崇; HWU, WUH-LIANG; FANN, CATHY SHENG-JIUAN; TSAI, TSEN-FANG; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; WU, JER-YUARN; CHEN, YUAN-TSONG |
| 國立臺灣大學 |
2005 |
Kif21a Gene C.2860c>T Mutation in Congenital Fibrosis of Extraocular Muscles Type 1 and 3
|
林隆光; 簡穎秀; 鄔哲源; 王藹侯; 蔣書娟; 胡務亮; LIN, LUKE LONG-KUANG; CHIEN, YIN-HSIU; WU, JER-YUARN; WANG, AI-HOU; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Fundus Abnormalities in a Patient with Type I Gaucher's Disease with 12- Year Follow-Up
|
王宗仁; 陳慕師; 施永豐; 胡務亮; 賴明陽; WANG, TSUNG-JEN; CHEN, MUH-SHY; SHIH, YUNG-FENG; HWU, WUH-LIANG; LAI, MING-YANG |
| 國立臺灣大學 |
2005 |
Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort
|
吳瑞美; 林靜嫻; 胡務亮; WU, RUEY-MEEI; LIN, CHIN-HSIEN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype
|
曾慶誠; 蔡立平; 胡務亮; 林秀娟; 趙美琴; 鐘育志; 朱紹盈; 呂謹立; TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI |
| 國立臺灣大學 |
2005 |
Reye's Syndrome Developing in an Infant on Treatment of Kawasaki Syndrome
|
魏之明; 陳慧玲; 李秉穎; 陳中明; 馬君毅; 胡務亮; WEI, CHIH-MING; CHEN, HUEY-LING; LEE, PING-ING; CHEN, CHUNG-MING; MA, JUINE-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Adenoviral Interneuronal Transportation after Retrograde Gene Transfer in Mice
|
蔡力凱; 蔡明勳; 徐松錕; 胡務亮; 李鴻; TSAI, LI-KAI; TSAI, MING-SHIUN; SHYUE, SONG-KUN; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2005 |
Six Novel Npc1 Mutations in Chinese Patients with Niemann–Pick Disease Type C
|
楊智超; 蘇怡寧; 余家利; 胡務亮; 李銘仁; YANG, CHIH-CHAO; SU, YI-NING; YU, CHIA-LI; HWU, WUH-LIANG; LEE, MING-JEN |
