Ríos GBBE, Saldarriaga RLM, Valdetaro BB

Language: Spanish
References: 12
Page: 395-399
PDF size: 655.46 Kb.

ABSTRACT

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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