Article
[Diagnosis of Fabry disease: usefulness of the clinical investigation].
La Revue de medecine interne - 1 Dec 2010
Demontis R
Abstract excerpt
Fabry disease, an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency, leads to an accumulation of globotriaosylceramide resulting in a multisystemic disorder. The initial manifestations of the disease are not specific, leading to a delayed diagnosis. We report a patient in whom the diagnosis was obtained by family screening and the confrontation of clinical signs. We also present a 4 year...
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