- Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry
-
Legnini E, Orsini JJ, Muhl A, Johnson B, Dajnoki A, Bodamer OA
- KMID: 1387345
- Ann Lab Med.
- 2012 Sep;32(5):319-323.
- doi: 10.3343/alm.2012.32.5.319
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... -
- CITED
-
- Close
- SHARE
-
- Close
