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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

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