- Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry
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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... -
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- Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
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Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Marodi L, Hwu WL, Bodamer OA
- KMID: 1707235
- Ann Lab Med.
- 2013 Jul;33(4):274-278.
- doi: 10.3343/alm.2013.33.4.274
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be... -
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