An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum
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DOI：
10.1016/j.ymgme.2005.02.008
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发表时间：
2005-07-01
影响因子：
3.8
通讯作者：
Hopwood, JJ
中科院分区：
文献类型：
--
作者：
Brooks, DA;Gibson, GJ;Hopwood, JJ
粘多糖病VI型(MPS VI，Maroteaux-Lamy综合征，McKusick#253200)是一种溶酶体储存障碍，由溶酶体外水解酶N-乙酰半乳糖胺-4-硫酸酯酶(4-硫酸酶，EC 3.1.6.1)缺乏引起。我们报告一例没有明显临床症状的MPS VI患者，其4-硫酸酯酶催化能力为正常的5%。这位病人是MPS VI临床谱弱化端的一个指示病例。(C)2005年，爱思唯尔公司出版。
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum. (c) 2005 Published by Elsevier Inc.