Article
Assessment of cellular cobalamin metabolism in Gaucher disease.
BMC medical genetics - 13 Jan 2020
Basgalupp Suelen Porto, Siebert Marina, Ferreira Charles, Behringer Sidney, Spiekerkoetter Ute, Hannibal Luciana, Schwartz Ida Vanessa Doederlein
Abstract excerpt
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 affecting hematological, hepatic and neurological axes. This disorder is divided into three types, based on the absence...
Topics
- Cell Culture Techniques
- Female
- Fibroblasts
- Gaucher Disease
- Glucosylceramidase
- Homocysteine
- Humans
- Lysosomes
- Male
- Methylmalonic Acid
- Mutation
- Phenotype
- Saposins
- Transcobalamins
- Vitamin B 12
- beta-Glucosidase