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. 2020 Feb 11;21(4):1195. doi: 10.3390/ijms21041195
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