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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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Библиографические подробности
Главные авторы: Thurberg, Beth L., Wasserstein, Melissa P., Schiano, Thomas, O’Brien, Fanny, Richards, Susan, Cox, Gerald F., McGovern, Margaret M.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
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Online-ссылка: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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