黏多糖贮积症VI型临床谱系衰减端的索引病例。
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
作者信息
Brooks Doug A, Gibson Gary J, Karageorgos Litsa, Hein Leanne K, Robertson Evelyn F, Hopwood John J
机构信息
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
出版信息
Mol Genet Metab. 2005 Jul;85(3):236-8. doi: 10.1016/j.ymgme.2005.02.008. Epub 2005 Mar 24.
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.
黏多糖贮积症VI型（MPS VI，马罗-拉米综合征，麦库西克编号#253200）是一种溶酶体贮积病，由溶酶体外切糖苷酶N-乙酰半乳糖胺-4-硫酸酯酶（4-硫酸酯酶，EC 3.1.6.1）缺乏所致。我们报告了一名无明显MPS VI临床症状的患者，其4-硫酸酯酶催化能力为正常水平的5%。该患者代表了MPS VI临床谱减弱端的首例病例。
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