Liaqat, K., Hussain, S., Acharya, A., Nasir, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes, 13(4), 662. https://doi.org/10.3390/genes13040662
Subjects:
Gaucher Disease
(MeSH)
Lysosomal Storage Disorders in Human Health and Disease
(OpenAlex Topic)
Mechanisms of Intracellular Membrane Trafficking
(OpenAlex Topic)
Glycosylation in Health and Disease
(OpenAlex Topic)
Publication Type:
Article
Unique ID:
10.3390/genes13040662
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex