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WCN24-2157 BEYOND DIALYSIS: IDENTIFYING A NOVEL GENETIC VARIANT IN CLASSIC FABRY DISEASE IN A MALE PATIENT WITH MILD RENAL IMPAIRMENT

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Abstract:

A Fabry disease (FD) (OMIM 301500) is a genetical disorder X-linked that results from a deficiency of the lysosomal enzyme alpha-galactosidase. It leads to accumulation of its substrate globotriaosylceramide (GL3) and globotriaosylsphingosine (LysoGb3), mainly in heart, endothelial and renal cell. Two major phenotypes, classic and later-onset, have been identified. The classic phenotype is caused by absent or minimal (<3% of mean normal) residual alfagalactosidase activity. The natural history of patient with Fabry disease studies showed that complications occurred at a mean age of approximately 40 years old.

Tópico:

Lysosomal Storage Disorders Research

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Información de la Fuente:

SCImago Journal & Country Rank
FuenteKidney International Reports
Cuartil año de publicaciónNo disponible
Volumen9
Issue4
PáginasS349 - S350
pISSNNo disponible
ISSNNo disponible

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