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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...
Uloženo v:
| Vydáno v: | BMC Med Genet |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2020
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| Témata: | |
| On-line přístup: | 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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