Musculoskeletal manifestations of Fabry´s disease: a case report
Keywords:
Fabry´s disease, musculoskeletal manifestations, geneticsAbstract
La enfermedad de Anderson-Fabry es una enfermedad genética, de carácter hereditario, que causa la deficiencia o ausencia de la enzima alfa-galactosidasa llevando al acúmulo de globotriacilceramida en diversas células causando sus manifestaciones clínicas, siendo considerada la segunda enfermedad de depósito mas común después de la enfermedad de Gaucher. Describimos el caso de un paciente que presentó manifestaciones musculoesqueléticas compatibles con la enfermedad de Fabry.Downloads
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