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. 2020 May 27;6(2):42. doi: 10.3390/ijns6020042
ARG Arginase deficiency
ASA Argininosuccinic aciduria
BKT Betaketothiolase deficiency
CACT Carnitine acylcarnitine translocase deficiency
CIT Citrullinemia type 1
CLIR Collaborative laboratory integrated reports
CPT1 Carnitine palmitoyl transferase 1 deficiency
CPT2 Carnitine palmitoyl transferase 2 deficiency
CUD Carnitine uptake deficiency
DBS Dried blood spots
GA1 Glutaric aciduria type 1
HCY Homocystinuria
IVA Isovaleric aciduria
LCHAD Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
LIS Laboratory information system
MAD Multiple acyl-coenzyme A dehydrogenase deficiency
MCAD Medium-chain acyl-coenzyme A dehydrogenase deficiency
MMA Methylmalonic aciduria
MS/MS Tandem mass spectrometry
MSUD Maple syrup disease
N/A Not applicable
PA Propionic aciduria
PKU Phenylketonuria
PPV Positive predictive value
R4S Region 4 Stork
TYR Tyrosinemia type 1
VLCAD Very long-chain acyl-coenzyme A dehydrogenase deficiency