IV型粘脂贮积症——一种罕见的遗传疾病：阿什肯纳兹犹太人群筛查新增项目

Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.

作者信息

Gordon Roxann M, Marchese Teresa

机构信息

Nurse-Midwifery Program, Georgetown School of Nursing and Health Studies, Georgetown University, Washington, DC 20057, USA.

出版信息

J Midwifery Womens Health. 2004 Jul-Aug;49(4):359-60. doi: 10.1016/j.jmwh.2004.04.009.

DOI:10.1016/j.jmwh.2004.04.009

PMID:15236718

Abstract

Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. Current information available about testing options and the Ashkenazi Jewish Screening panel, including the addition of screening for MLIV, is presented. The importance of genetic screening and counseling is emphasized.

摘要

IV型粘脂贮积症（MLIV）是一种罕见的遗传性疾病，主要影响阿什肯纳兹犹太血统的人。本文介绍了有关检测选项和阿什肯纳兹犹太筛查小组的现有信息，包括增加对IV型粘脂贮积症的筛查。强调了基因筛查和咨询的重要性。