Title : Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.

Pub. Date : 2020 Jul 11

PMID : 32699723






1 Functional Relationships(s)
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Protein Name
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1 This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), leading to multiorgan failure and subsequently premature death. globotriaosylceramide alpha 1,4-galactosyltransferase (P blood group) Homo sapiens