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Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry

BACKGROUND: Niemann Pick disease (NP) is a rare, lysosomal storage disorder due to deficiency of the intra-lysosomal enzyme acid sphingomyelinase (ASM) resulting in intracellular accumulation of sphingomyelin. We evaluated a tandem mass spectrometry (MS/MS) method to analyze ASM activity in dried bl...

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Detalles Bibliográficos
Autores principales:	Legnini, Elisa, Orsini, Joe J., Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427818/ https://www.ncbi.nlm.nih.gov/pubmed/22950066 http://dx.doi.org/10.3343/alm.2012.32.5.319

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