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Acroparesthesia in a Female: Diagnostic Dilemma

Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. The disease affects nearly all major organ systems, with the prim...

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Detalles Bibliográficos
Autores principales: Kelash, Fnu, Kujtan, Lara, Mallidi, Padmaja V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229998/
https://www.ncbi.nlm.nih.gov/pubmed/25530762
http://dx.doi.org/10.1155/2014/172197