Musculoskeletal manifestations of Fabry's disease: a case report

被引：0
|
作者：
Rios Gomes Bica, Blanca Elena [1 ]
Saldarriaga Rivera, Lina Maria [2 ]
Bianchi, Breno Valdetaro [2 ]
机构：
[1] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Dept Reumatol, Reumatol Pediat, Rio De Janeiro, Brazil
[2] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Dept Reumatol, Med Interna & Reumatol, Rio De Janeiro, Brazil
来源：
REVISTA CUBANA DE REUMATOLOGIA | 2014年 / 16卷 / 03期
关键词：
Fabry's disease; musculoskeletal manifestations; genetics;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Anderson-Fabry's disease is a genetic and hereditary disorder caused by the deficiency or absence of the enzyme alphagalactosidase leading to accumulation of globotriacilceramida in different cells causing many clinical manifestations. It is considered the second most common storage disease after Gaucher's disease. We describe a patient who presented musculoskeletal manifestations of Fabry's disease.
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收藏
页码：395 / 399
页数：5
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