Assessment of cellular cobalamin metabolism in Gaucher disease

Assessment of cellular cobalamin metabolism in Gaucher disease

Abstract Background 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. Clinically, GD manifests with heterogeneous multiorgan involvement mai...

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Bibliographic Details
Main Authors: Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Gaucher disease
Vitamin B12
Cobalamin
Beta-glucosidase
Methylmalonic acid
Homocysteine
Online Access:https://doi.org/10.1186/s12881-020-0947-z

Internet

https://doi.org/10.1186/s12881-020-0947-z

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