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Liver and Skin Histopathology in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder characterized by the pathologic accumulation of sphingomyelin in multiple cells types, and occurs most prominently within the liver, spleen and lungs, leading to significant clinical disease. Seventeen ASMD patients underwent a...

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Detalhes bibliográficos
Main Authors: Thurberg, Beth L., Wasserstein, Melissa P., Schiano, Thomas, O’Brien, Fanny, Richards, Susan, Cox, Gerald F., McGovern, Margaret M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3396757/
https://ncbi.nlm.nih.gov/pubmed/22613999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/PAS.0b013e31825793ff
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