Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

Acid sphingomyelinase deficiency (ASMD) is a rare metabolic disorder due to biallelic mutation in the SMPD1 gene. The defect leads to the accumulation of sphingomyelin within the cells of the reticulo-endothelial system, particularly in the spleen, liver, lungs, and bone marrow causing hepato-spleno...

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Detalles Bibliográficos
Autores principales: Sechi, Annalisa, Vit, Alessandro, Avellini, Claudio, Dardis, Andrea, Pellegrin, Andrea, Scarpa, Maurizio, Bembi, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502771/
https://www.ncbi.nlm.nih.gov/pubmed/34660203
http://dx.doi.org/10.1016/j.ymgmr.2021.100808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502771/
https://www.ncbi.nlm.nih.gov/pubmed/34660203
http://dx.doi.org/10.1016/j.ymgmr.2021.100808

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