2014, Number S1
Rev Cub de Reu 2014; 16 (S1)
Musculoskeletal manifestations of Fabry´s disease: a case report
Ríos GBBE, Saldarriaga RLM, Valdetaro BB
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Anderson-Fabry´s disease is a genetic and hereditary disorder caused by the deficiency or absence of the enzyme alpha-galactosidase 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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