| 國立臺灣大學 |
2009 |
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
|
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 |
Clinical Features of Aadc-Deficient Children and Therapeutic Prospects
|
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2008 |
Acute Metabolic Decompensation and Sudden Death in Barth Syndrome: Report of a Family and a Literature Review
|
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 |
Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
|
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
|
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
|
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 |
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 |
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 |
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 |
Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug
|
邱舜南; 簡穎秀; 吳美環; 王主科; 陳世杰; CHIU, SHUENN-NAN; CHIEN, YIN-HSIU; WU, MEI-HWAN; WANG, JOU-KOU; CHEN, SHYH-JYE |
| 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 |
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 |
Clinical Aspects and Molecular Analysis of Chinese Patients with Wiskott- Aldrich Syndrome in Taiwan
|
李文益; 江東和; 黃璟隆; 簡穎秀; 張魁文; LEE, WEN-I; JAING, TANG-HER; HUANG, JING-LONG; CHIEN, YIN-HSIU; CHANG, KUEI-WEN |
| 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 |
2007-07-31 |
CD7表面抗原在發炎反應中之地位(II)
|
簡穎秀 |
| 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 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2007 |
Deficiency of the Carnitine Transporter (Octn2) with Partial N- Acetylglutamate Synthase (Nags) Deficiency
|
胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG |
| 國立臺灣大學 |
2007 |
Deconstructing Pompe Disease by Analyzing Single Muscle Fibers
|
簡穎秀; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2007 |
The Genetics of Atopic Dermatitis
|
簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2007 |
A Review of Treatment of Pompe Disease in Infants
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2005 |
Plasma Chitotriosidase Activity and Malaria
|
胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 高雄醫學大學 |
2004 |
代謝性疾病--台灣經驗
|
李明亮;王作仁;王仲興;牛道明;朱紹盈;邱寶琴;林如立;林秀娟;林炫沛;林瑋德;侯家瑋;胡務亮;徐山靜;黃美智;黃淵德;陳垣崇;趙美琴;蔡文友;蔡立平;蔡承恩;蔡輔仁;蔡俊慧;蔣思慧;簡穎秀;賴建成;遲景上;蕭廣仁;蕭詩郁;蘇本華 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
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 |
| 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 |
