Rare genetic disorder can be detected early

 Mon, Oct 07, 2013        By Alison Hsiao  /  Staff reporter  / Find the original article HERE  

Newborn screening and early treatment of Mucopolysaccharidosis type I (MPS I) — a rare genetic disease — is now possible, thanks to breakthrough study by Mackay Memorial Hospital. MPS I is caused by a defect in the gene that disrupts the production of an enzyme called alpha-L-iduronidase (IDUA), which eventually leads to organ damage and death. The hospital’s pediatric genetics director, Lin Shuan-pei (林炫沛), said that babies with the disorder display no symptoms at all after birth, which is why early diagnosis is so important.

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan-台湾经验领先全球 马偕第一型黏多醣症新生儿筛检计划有成

未发病即早期确诊 马偕优异成果登上国际罕见疾病权威医学期刊

（2013/10/02原文出处：马偕医院官网)

继黏多醣症^注1特殊药物治疗研发成功，罕见疾病医学研究领域又见重大突破！马偕纪念医院展开大规模第一型黏多醣症新生儿筛检计划，成功于疾病未发前确诊两名新生儿患者，未来透过积极追踪、尽早选择适当治疗方法并启动支持性照护，可望避免疾病造成不可逆之伤害。此研究成果亦获得国际学术界肯定，刊登于最新一期的国际罕病权威医学期刊「Orphanet Journal of RareDiseases, OJRD」。

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Infertility Treatment - Physicians Profile & Clinic Hours

You can contact us via (mmhimsc@mmh.org.tw) to schedule an appointment.

* List is ordered alphabetically by physicians' first names

Dr. Robert Kuo-Kuang Lee
Dr. Robert Kuo-Kuang Lee 李國光 醫師	>>Professional Specialty   1. Infertility      2. Assisted reproductive technique (test tube baby)    3. Reproductive endocrinology      4. Care of menopause >>Current Position    1.Senior attending physician,, Obstetrics  & Gynecology Department, Mackay Memorial Hospital ,Taiwan(present)     >> Education & Experience      1.     MD degree of Kaohsiung Medical University,Taiwan 2.     Residency: Obstetrics & Gynecology, Mackay Memorial Hospital, Taiwan      3.     Research fellow of Reproductive Medicine Long Beach Medical Center, Irvine Medical School, University of California,U.S.A (1989~1990) 4.     Director of Infertility ,  Mackay Memorial Hospital (1997~2003) 5.     Chairman of Obstetrics  & Gynecology Department ,  Mackay Memorial Hospital ,Taiwan(2002~2006)     6.     President of Taiwan Society of Reproductive Medicine,Taiwan (2000~2002) >> Language       Fluent in Taiwanese / Mandarin / English
Clinic Hours	Monday - 9:00AM-12:00PM Wednesday - 2:00PM-5:00PM Friday - 9:00AM-12:00PM Saturday - 9:00AM-12:00PM

Dr. Yuh-Ming Hwu
Dr. Yuh-Ming Hwu 胡玉銘 醫師	>>Professional Specialty   1. Infertility      2. Assisted reproductive technique (test tube baby)    3. Reproductive endocrinology       >>Current Position    1.     Director 0f Division of Infertility and Reproductive endocrinology, Department of Obstetrics & Gynecology, Mackay Memorial Hospital ,Taiwan(2005 till now) 2.     Senior attending physician, Division of Infertility and Reproductive endocrinology,   Department of Obstetrics & Gynecology, Mackay Memorial Hospital,Taiwan (1989 till now) 3.     Adjunct Associate Professor , Mackay Medicine, Nursing and Management College ,Taiwan(present) >> Professional Training & Experience    1.     MD degree of Taipei medical university ,Taiwan(1983)    2.     Maser of medical science in assisted reproduction technology in Nottingham university in Nottingham, UK. (1994~1995) 3.     Residency: Obstetrics & Gynecology, Mackay Memorial Hospital, Taiwan >> Language       Fluent in Taiwanese / Mandarin / English
Clinic Hours	Monday - 6:00PM-9:00PM Tuesday - 2:00PM-5:00PM Wednesday - 6:00PM-9:00PM Thursday - 2:00PM-5:00PM Saturday - 9:00AM-12:00PM

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