Items for Author "簡穎秀" 

Showing 46 items.

Collection	Date	Title	Authors
[附設醫院基因醫學部] 研究計畫	2008-07-31	溶小體-酸性α-葡萄糖甘酉每基因與相關調控基因變異與低酵素活性之相關性　（新制多年期第1年）	簡穎秀
[附設醫院基因醫學部] 研究計畫	2007-07-31	CD7表面抗原在發炎反應中之地位(II)	簡穎秀
[醫學系小兒科] 期刊論文	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
[醫學系小兒科] 期刊論文	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
[醫學系小兒科] 期刊論文	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
[醫學系小兒科] 期刊論文	2007	Deficiency of the Carnitine Transporter (Octn2) with Partial N- Acetylglutamate Synthase (Nags) Deficiency	胡務亮; 簡穎秀; 林佳儀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LIN, CHIA-YUN; LEE, NI-CHUNG
[附設醫院小兒部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	2007	Deconstructing Pompe Disease by Analyzing Single Muscle Fibers	簡穎秀; CHIEN, YIN-HSIU
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	2007	The Genetics of Atopic Dermatitis	簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN
[附設醫院小兒部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	2006	De Novo Mutation in the Btk Gene of Atypical X-Linked Agammaglobulinemia in a Patient with Recurrent Pyoderma	林茂才; 簡穎秀; 徐世達; 黃立心; 姜義祺; 溫大慶; 梁佩瑄; 楊懷智; LIN, MAO-TSAIR; CHIEN, YIN-HSIU; SHYUR, SHYH-DAR; HUANG, LI-HSIN; CHIANG, YI-CHI; WEN, DA-CHIN; LIANG, PEI-HSUAN; YANG, HWAI-CHIH
[附設醫院小兒部] 期刊論文	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
[附設醫院小兒部] 期刊論文	2006	Identification of Variations in the Human Phosphoinositide 3-Kinase P110 Delta Gene in Children with Primary B-Cell Immunodeficiency of Unknown Aetiology	周獻堂; 簡穎秀; 楊曜旭; 周正成; 林東燦; 林凱信; 江伯倫; JOU, SHIANN-TARNG; CHIEN, YIN-HSIU; YANG, YAO-HSU; CHOU, CHEN-CHENG; LIN, DONG-TSAMN; LIN, KAI-HSIN; CHIANG, BOR-LUEN
[附設醫院小兒部] 期刊論文	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
[醫學系小兒科] 期刊論文	2005	Plasma Chitotriosidase Activity and Malaria	胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU
[醫學系小兒科] 期刊論文	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
[醫學系小兒科] 期刊論文	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
[醫學系眼科] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	2005	Spectrum of Hypermethioninemia in Neonatal Screening	簡穎秀; 蔣書娟; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HWU, WUH-LIANG
[醫學系小兒科] 期刊論文	2004	Distal Arthrogryposis in Two Sisters Born to Different Fathers	胡務亮; 簡穎秀; 許嘉琪; HWU, WUH-LIANG; CHIEN, YIN-HSIU; HSU, CHIA-CHI
[醫學系放射線科] 期刊論文	2004	Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment	彭信逢; 曾文毅; 簡穎秀; 胡務亮; 廖漢文; PENG, SHINN-FORNG; TSENG, WEN-YIH; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LIU, HON-MAN
[附設醫院基因醫學部] 期刊論文	2004	Carbohydrate Deficient Glycoprotein Syndrome Type Ia	朱凱麟; 簡穎秀; 蔡承恩; 胡務亮; CHU, KAI-LIN; CHIEN, YIN-HSIU; TSAI, CHEN-EN; HUDSON H. FREEZE; ERIK EKLUND; HWU, WUH-LIANG
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[醫學系小兒科] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[醫學系小兒科] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	2002	Cockayne Syndrome in a Family	簡穎秀; 周弘傑; 胡務亮; CHIEN, YIN-HSIU; CHOU, HUNG-CHIEH; HWU, WUH-LIANG
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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
[附設醫院基因醫學部] 期刊論文	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