Assessment of cellular cobalamin metabolism in Gaucher disease.
Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD.
Basgalupp SP, et al.
BMC Med Genet. 2020 Jan 13;21(1):12. doi: 10.1186/s12881-020-0947-z.
BMC Med Genet. 2020.
PMID: 31931749
Free PMC article.
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. ...
BACKGROUND: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta- …