Niemann-Pick type A disease with new mutation: a case report

BACKGROUND: Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerat...

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Detalles Bibliográficos
Autores principales: Aghamahdi, Fatemeh, Nirouei, Matineh, Savad, Shahram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327407/
https://www.ncbi.nlm.nih.gov/pubmed/35883096
http://dx.doi.org/10.1186/s13256-022-03486-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327407/
https://www.ncbi.nlm.nih.gov/pubmed/35883096
http://dx.doi.org/10.1186/s13256-022-03486-5

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