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Concept information

Preferred term

enfermedad de Fabry

Type

  • Topic

Definition

  • Information Enfermedad metabólica hereditaria ligada al cromosoma X, causada por una deficiencia de la enzima lisosomal alfa galactosidasa A. Se caracteriza por la acumulación intralisosomal de globotriaosilceramida y otros glicoesfingolípidos en los vasos sanguíneos de todo el cuerpo, lo que conduce a complicaciones en diversos sistemas, entre las que se incluyen trastornos renales, cardiacos, cerebrovasculares y cutáneos.

Broader concept

In other languages

URI

https://lod.nal.usda.gov/nalt/299590

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RDF/XML TURTLE JSON-LD Created 5/5/17, last modified 11/10/17