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Showing items 141-162 of 162  (7 Page(s) Totally)
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Institution Date Title Author
國立臺灣大學 2004 A Step-Wise Diagnosis of Fragile X Syndrome in Taiwan 黃淵德; 蔣書娟; 曾慶誠; 劉敬萱; 簡穎秀; 胡務亮; HUANG, YUAN-TE; CHIANG, SHU-CHUAN; TZENG, CHING-CHERNG; LIU, CHING-HSUAN; CHIEN, YIN-HSIU; HWU, WUH-LIANG
國立臺灣大學 2004 Poor Outcome for Neonatal-Type Nonketotic Hyperglycinemia Treated with High-Dose Sodium Benzoate and Dextromethorphan 簡穎秀; 許嘉琪; 黃愛珠; 周西平; 呂立; 李旺祚; 胡務亮; CHIEN, YIN-HSIU; HSU, CHIA-CHI; HUANG, AI-CHU; CHOU, SHI-PING; LU, FRANK L; LEE, WANG-TSO; HWU, WUH-LIANG
國立臺灣大學 2004 Mutation Spectrum in Taiwanese Patients with Phenylalanine Hydroxylase Deficiency and a Founder Effect for the R241c Mutation 簡穎秀; 蔣書娟; 黃愛珠; 周西平; 曾思珊; 黃淵德; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; CHOU, SHI-PING; TSENG, SZU-SAN; HUANG, YUAN-TE; HWU, WUH-LIANG
國立臺灣大學 2004 Phenylalanine Hydroxylase Deficiency: Interlligence of Patients after Early Dietary Treatment 簡穎秀; 蔣書娟; 黃愛珠; 林京美; 丘彥南; 周西平; 王作仁; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; LIN, JING-MEEI; CHIU, YEN-NAN; CHOU, SHI-PING; WANG, TSO-REN; 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 2003 Association between Levels of Tnf-Alpha and Tnf-Alpha Promoter-308 a/a Polymorphism in Children with Kawasaki Disease 簡穎秀; 楊曜旭; 盧孟佑; 林于粲; 江伯倫; CHIEN, YIN-HSIU; YANG, YAO-HSU; LU, MENG-YAO; LIN, YU-TSAN; CHIANG, BOR-LUEN
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 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 Rehospitalization of Extremely-Low-Birth-Weight Infants in First 2 Years of Life 簡穎秀; 曹伯年; 周弘傑; CHIEN, YIN-HSIU; TSAO, PO-NIEN; CHOU, HUNG-CHIEH
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 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 Nephrotic Syndrome in a Bone Marrow Transplant Recipient without Chronic Graft-Versus-Host Disease 簡穎秀; 林凱信; 李宗諺; 盧孟佑; 曹永魁; CHIEN, YIN-HSIU; LIN, KAI-HSIN; LEE, TZONG-YANN; LU, MENG-YAO; TSAU, YONG-KWEI
國立臺灣大學 2000 Congenital Intracranial Teratoma 簡穎秀; 曹伯年; 李旺祚; 鄒國英; CHIEN, YIN-HSIU; TSAO, PO-NIEN; LEE, WANG-TSO; YAU, KOU-INN TSOU
國立臺灣大學 1999 Typhoid Fever Presenting as Infection-Associated Hemophagocytic Syndrome: Report of One Case. 簡穎秀; 李秉穎; 黃立民; 李慶雲; 林東燦; 林凱信; CHIEN, YIN-HSIU; LEE, PING-ING; HUANG, LI-MIN; LEE, CHIN-YUN; LIN, DONG-TSAMN; LIN, KAI-HSIN

Showing items 141-162 of 162  (7 Page(s) Totally)
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