Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency

Niemann-Pick disease (types A and B), or acid sphingomyelinase deficiency, is an inherited deficiency of acid sphingomyelinase, resulting in intralysosomal accumulation of sphingomyelin in cells throughout the body, particularly within those of the reticuloendothelial system. These cellular changes...

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Hlavní autoři: Taksir, Tatyana V., Johnson, Jennifer, Maloney, Colleen L., Yandl, Emily, Griffiths, Denise, Thurberg, Beth L., Ryan, Susan
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3460358/
https://ncbi.nlm.nih.gov/pubmed/22614361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1369/0022155412451129
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