Title : The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation.

Pub. Date : 2021 Nov 20

PMID : 34803097






2 Functional Relationships(s)
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1 Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. globotriaosylceramide galactosidase, alpha Mus musculus
2 Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. globotriaosylceramide galactosidase, alpha Mus musculus