Assessment of cellular cobalamin metabolism in Gaucher disease

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 mainly affe...

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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Basgalupp, Suelen Porto, Siebert, Marina, Ferreira, Charles, Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa Doederlein
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6958775/
https://ncbi.nlm.nih.gov/pubmed/31931749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0947-z
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