Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin. Lipid storage leads to foam cell infiltration in tissues, and clinical features including hepato...

Descripción completa

Detalles Bibliográficos
Autores principales: Pinto, Carolina, Sousa, Diana, Ghilas, Vladimir, Dardis, Andrea, Scarpa, Maurizio, Macedo, Maria Fatima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657623/
https://www.ncbi.nlm.nih.gov/pubmed/34884674
http://dx.doi.org/10.3390/ijms222312870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657623/
https://www.ncbi.nlm.nih.gov/pubmed/34884674
http://dx.doi.org/10.3390/ijms222312870

Ejemplares similares