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. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355
3-OH-PA 3-Hydroxypropionic acid
C2 Acetyl carnitine
C3 Propionyl carnitine
C3/C2 Propionyl carnitine-acetyl carnitine ratio
Cbl Cobalamin
CBS Cystathionine beta-synthase
DBS Dried blood spot
Hcy Total homocysteine
IMD Inherited metabolic disease
MCA Methylcitrate
Met Methionine
Met/Phe Methionine-phenylalanine ratio
MMA Methylmalonic acid
MS/MS Tandem mass spectrometry
MTHFR Methylenetetrahydrofolate reductase
MUT Methylmalonyl-CoA mutase
NBS Newborn screening
NGS2025 Pilot panel “Newborn screening 2020/2025”
Phe Phenylalanine
UKHD Heidelberg University Hospital