CSF |
Cerebrospinal Fluid |
DBS |
Dried Blood Spot |
GAG |
Glycosaminoglycans |
GC-MS |
Gas Chromatography-coupled Mass Spectrometry |
IEM |
Inborn Errors of Metabolism |
LC-ESI |
Liquid Chromatography-Electrospray Ionisation |
MS/MS |
Tandem Mass Spectrometry |
MALDI-TOF |
Matrix-Assisted Laser Desorption/Ionisation-Time Of Flight |
MPS |
Mucopolysaccharidoses |
NBS |
Newborn Screening |
NGS |
Next Generation Sequencing |
PKU |
Phenylketonuria |
TLC |
Thin Layer Chromatography |
VLCFA |
Very-Long-Chain Fatty Acids |
VUS |
Variants of Uncertain Significance |