Niemann-Pick Disease on Bone Marrow Trephine: A Rare Manifestation

Niemann-Pick disease has an autosomal recessive inheritance pattern and occurs due to a deficiency of a lysosomal enzyme, sphingomyelinase. It causes variable clinical signs and symptoms such as hepatosplenomegaly, delayed milestones, and peripheral cytopenia due to bone marrow involvement. Here, we...

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Detalles Bibliográficos
Autores principales: Qadir, Hira, Baig, Mahad M, Adil, Anas, Aisha, Maria, Raees, Izzan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642814/
https://www.ncbi.nlm.nih.gov/pubmed/34877220
http://dx.doi.org/10.7759/cureus.19246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642814/
https://www.ncbi.nlm.nih.gov/pubmed/34877220
http://dx.doi.org/10.7759/cureus.19246

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