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"hwu wuh liang"的相关文件
显示项目 151-200 / 326 (共7页)
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| 國立臺灣大學 |
2009 |
X-Linked Liver Glycogenosis in a Taiwanese Family: Transmission from Undiagnosed Males
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陳思達; 陳慧玲; 倪衍玄; 簡穎秀; 鄭永銘; 張美惠; 胡務亮; CHEN, SZU-TAH; CHEN, HUEY-LING; NI, YEN-HSUAN; CHIEN, YIN-HSIU; JENG, YUNG-MING; CHANG, MEI-HWEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Brain Myelination Defects in Infantile Onset Pompe Disease
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簡穎秀; 彭信逢; 曾文毅; 胡務亮; CHIEN, YIN-HSIU; PENG, STEVEN SHINN-FORNG; TSENG, WEN-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy
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蔡力凱; 楊智超; 丁振紘; 蘇怡寧; 胡務亮; 李鴻; TSAI, LI-KAI; YANG, CHIH-CHAO; TING, CHEN-HON; SU, YI-NING; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2009 |
Cystathionine Gamma-Lyase: Clinical, Metabolic, Genetic, and Structural Studies
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
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簡穎秀; 李妮鍾; 蔣書娟; 黃愛珠; 吳美環; 黃佩欣; 蔡輔仁; 陳垣崇; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; WU, MEI-HWAN; HUANG, PEI-HSIN; TSAI, FUU-JEN; CHEN, YUAN-TSONG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Application of Snapshot Multiplex Assays for Simultaneous Multigene Mutation Screening in Patients with Idiopathic Sensorineural Hearing Impairment
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吳振吉; 呂盈璋; 陳培哲; 劉妍甄; 胡務亮; 許權振; WU, CHEN-CHI; LU, YING-CHANG; CHEN, PEI-JER; LIU, ALYSSA YAN-ZHEN; HWU, WUH-LIANG; HSU, CHUAN-JEN |
| 國立臺灣大學 |
2009 |
Clinical Features of Aadc-Deficient Children and Therapeutic Prospects
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胡務亮; 簡穎秀; 李妮鍾; 李旺祚; 吳瑞美; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LEE, WANG-TSO; WU, RUEY-MEEI |
| 國立成功大學 |
2008-08 |
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients
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Lin, Wei-De; Lin, Shuan-Pei; Wang, Chung-Hsing; Hwu, Wuh-Liang; Chuang, Chih-Kuang; Lin, Shio-Jean; Tsai, Yushin; Chen, Chih-Ping; Tsai, Fuu-Jen |
| 國立臺灣大學 |
2008 |
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein
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Chiou, Yu-Wei; Hwu, Wuh-Liang; Lee, Yu-May |
| 國立臺灣大學 |
2008 |
Clinical Response to Recombinant Acid Alpha-Glucosidase Is Predicted by Cardiac Outcome Measures in Children with Pompe Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Development of a Disease Severity Scoring System for Type 1 Gaucher Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Acute Metabolic Decompensation and Sudden Death in Barth Syndrome: Report of a Family and a Literature Review
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顏廷聿; 胡務亮; 簡穎秀; 吳美環; 林銘泰; 曹龍彥; 謝武勳; 李妮鍾; YEN, TING-YU; HWU, WUH-LIANG; CHIEN, YIN- HSIU; WU, MEI-HWAN; LIN, MING-TAI; TSAO, LON-YEN; HSIEH, WU-SHIUN; LEE, NI-CHUNG |
| 國立臺灣大學 |
2008 |
Bone Marrow Transplantation Results in Donor-Derived Hepatocytes in an Animal Model of Inherited Cholestatic Liver Disease
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陳慧玲; 陳惠玲; 胡務亮; 鄭永銘; 張美惠; CHEN, HUEY-LING; CHEN, HUI-LING; HWU, WUH-LIANG; JENG, YUNG-MING; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2008 |
Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
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陳弘文; 陳慧玲; 倪衍玄; 李妮鍾; 簡穎秀; 胡務亮; 黃淵德; 邱寶琴; 張美惠; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2008 |
Detection and Imaging of Non-Contractile Inclusions and Sarcomeric Anomalies in Skeletal Muscle by Second Harmonic Generation Combined with Two-Photon Excited Fluorescence
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan
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謝錦桐; 胡務亮; 黃淵德; 黃愛珠; 王曉芳; 胡閔慧; 簡穎秀; HSIEH, CHIN-TUNG; HWU, WUH-LIANG; HUANG, YUAN-TE; HUANG, AI-CHU; WANG, SHIAO-FANG; HU, MIN-HUEI; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
Genetic Analysis of Mucopolysaccharidosis Type Vi in Taiwanese Patients
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林瑋德; 林炫沛; 王仲興; 胡務亮; 莊志光; 林秀娟; 陳持平; 蔡輔仁; LIN, WEI-DE; LIN, SHUAN-PEI; WANG, CHUNG- HSING; HWU, WUH-LIANG; CHUANG, CHIH-KUANG; LIN, SHIO-JEAN; CHEN, CHIH-PING; TSAI, FUU- JEN |
| 國立臺灣大學 |
2008 |
Hsp27 Decreases Inclusion Body Formation from Mutated Gtp-Cyclohydrolase I Protein
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邱昱維; 胡務亮; 李玉梅; CHIOU, YU-WEI; HWU, WUH-LIANG; LEE, YU- MAY |
| 國立臺灣大學 |
2008 |
Identification of Eight Novel Mutations of the Acid Alpha-Glucosidase Gene Causing the Infantile or Juvenile Form of Glycogen Storage Disease Type Ii
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萬磊; 李正淳; 許欽木; 胡務亮; 楊智超; 蔡長海; 蔡輔仁; WAN, LEI; LEE, CHENG-CHUN; HSU, CHIN-MOO; HWU, WUH-LIANG; YANG, CHIH-CHAO; TSAI, CHANG-HAI; TSAI, FUU-JEN |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Pompe Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alpha in Infants and Children with Pompe's Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
A Clinical Trial of Idursulease in Hunter Syndrome Patients 5 Years Old and Younger
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Development of a Disease Severity Scoring System for Type I Gaucher Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Miglustat in Patients with Niemann-Pick Type C Disease (Npc): A Multicentre Retrospective Survey
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Pompe Disease in Thai Infants - Report of 4 Cases
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Neonatal Screening for Pompe Disease: A 2-Tier Screening Test
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胡務亮; 蔣書娟; 李妮鍾; 簡穎秀; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
An Update on Newborn Screening for Pompe Disease
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
Screening for Pompe Disease and Fabry Disease
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胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG |
| 國立臺灣大學 |
2008 |
A Promoter Sequence Variant of Znf750 Is Linked with Familial Psoriasis
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楊奇凡; 胡務亮; 楊麗珍; 鍾文宏; 簡穎秀; 范盛娟; 廖楓; 陳垣崇; YANG, CHI-FAN; HWU, WUH-LIANG; YANG, LI- CHENG; CHUNG, WEN-HUNG; CHIEN, YIN-HSIU; FANN, CATHY SHENG-JIUAN; LIAO, FANG; CHEN, YUAN- TSONG |
| 國立臺灣大學 |
2008 |
Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Pompe Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Development of a Disease Severity Scoring System for Type 1 Gaucher Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Prevalence of the Ivs6+4 a > T Mutation in Taiwanese Patients with Aromatic Amino Acid Decarboxylase Deficiency
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
显示项目 151-200 / 326 (共7页)
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