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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
國立臺灣大學 2008 Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan 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 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 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 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 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2008 Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2008 Alglucosidase Alpha in Infants and Children with Pompe's Disease 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 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 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 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2008 Pompe Disease in Thai Infants - Report of 4 Cases 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 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2008 Neonatal Screening for Pompe Disease: A 2-Tier Screening Test 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 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 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 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 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 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 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

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