Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

Niemann-Pick disease (NPD) type A is a fatal autosomal recessive lysosomal storage disorder. This rare condition impairs the metabolization of lipids, leading to their accumulation within the cells. Consequently, it causes growth retardation, pancytopenia, and cellular malfunctioning in various orga...

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Detalles Bibliográficos
Autores principales: Qureshi, Khadija, Abdulmajeed, Zahraa Ghasan, Saleem, Shoaib, Tariq, Javera, Iqbal, Mashhood
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903814/
https://www.ncbi.nlm.nih.gov/pubmed/35282558
http://dx.doi.org/10.7759/cureus.21955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903814/
https://www.ncbi.nlm.nih.gov/pubmed/35282558
http://dx.doi.org/10.7759/cureus.21955

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