LC-MS/MS |
Liquid chromatography with tandem mass spectrometry |
CLSI |
Clinical and Laboratory Standards Institute |
LSD |
Lysosomal storage diseases |
GD |
Gaucher disease |
FD |
Fabry disease |
ASMD |
Acid sphingomyelin deficiency |
Gb1 |
Glycosphingolipid glucosylceramide |
GlcSph |
Lyso-glucosylsphingosine |
Gb3 |
Globotriaosylceramide |
Lyso-Gb3 |
Globotriaosylsphingosine |
Lyso-SM |
Lyso-sphingomyelin |
ERT |
Enzyme replacement therapy |
SRT |
Substrate reduction therapy |
DNA |
Desoxyribonucleic acid |
CCL18 |
C-C motif chemokine ligand 18 |
DBS |
Dried blood spot |
QC |
Quality control |
DMSO |
Dimethylsulfoxide |
MeOH |
Methanol |
RBCs |
Red blood cells |
K3-EDTA |
K3 potassium salt of ethylene diamine tetra acetic acid |
WBCs |
White blood cells |
ESI |
Electrospray ionization |
MRM |
Multiple reaction monitoring |
IS |
Internal standard |
LOQ |
Limit of quantification |
CV% |
Coefficient of variance |
SD |
Standard deviation |
S/N |
Signal-to-noise ratio |