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...

Descripción completa

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

Internet

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

Ejemplares similares