Assessment of cellular cobalamin metabolism in Gaucher disease | BMC Medical Genetics | Full Text

Assessment of cellular cobalamin metabolism in Gaucher disease | BMC Medical Genetics | Full Text

Assessment of cellular cobalamin metabolism in Gaucher disease

Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl...

Authors:Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal and Ida Vanessa Doederlein Schwartz

Citation:BMC Medical Genetics 2020 21:12

Content type:Research article

Published on: 13 January 2020

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