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Types A and B Niemann-Pick Disease

The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement....

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Schuchman, Edward H., Desnick, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5347465/
https://ncbi.nlm.nih.gov/pubmed/28164782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.12.008
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