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Showing items 176-200 of 326  (14 Page(s) Totally)
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Institution Date Title Author
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
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

Showing items 176-200 of 326  (14 Page(s) Totally)
<< < 3 4 5 6 7 8 9 10 11 12 > >>
View [10|25|50] records per page