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

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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Bibliographic Details
Main Authors: Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
ASMD
Niemann Pick type B
Focal hepatic lesions
Foamy macrophages aggregates
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921001038

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http://www.sciencedirect.com/science/article/pii/S2214426921001038

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