Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

Background: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is oft...

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Autors principals: Jagadish Jamboti (Autor), Cynthia H Forrest (Autor)
Format: Llibre
Publicat: Society of Diabetic Nephropathy Prevention, 2017-07-01T00:00:00Z.
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