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& Al-Ayadhi, L

HT1 diagnostic protocol Abbreviations C0 free carnitine C2 acetylcarnitine C5 isovalerylcarnitine C5-DC glutarylcarnitine C8 octanoylcarnitine C10 decanoylcarnitine CBS cystathionine b-synthase CDC Centres for Disease Control and Prevention CF cystic fibrosis CHT congenital hypothyroidism CLS clinical liaison service DHPR dihydropteridine reductase EQA external quality assessment GA1 glutaric aciduria type 1 GA2 glutaric aciduria type 2 GAL-1-PUT galactose-1-phosphate-uridyl-transferase GALP galactose-1-phosphate GCDH glutaryl-CoA dehydrogenase HCU homocystinuria HT1 hereditary tyrosinaemia type 1 IMD inherited metabolic disease IQC internal quality control IS internal standards IVA isovaleric acidaemia IVD isovaleryl-CoA dehydrogenase LCHADD long-chain hydroxyacyl-CoA dehydrogenase deficiency LC/MS/MS or tandem mass spectrometer with liquid chromatography sample induction UPLC-MS/MS Leu leucine (when measured by MS/MS can include isoleucine and alloisoleucine) MADD multiple acyl-CoA dehydrogenase deficiency MAT methionine adenosyl transferase MCADD medium-chain acyl-CoA dehydrogenase deficiency Met methionine MRM multiple reaction monitoring MS/MS tandem mass spectrometry MSUD maple syrup urine disease PAH phenylalanine hydroxylase Phe phenylalanine PHE Public Health England PKU phenylketonuria PPV positive predictive value SBCAD short/branched chain acyl-CoA dehydrogenase deficiency SCD sickle cell disease THcy total homocysteine TSH thyroid stimulating hormone Tyr tyrosine UKCSNS-MCADD UK Collaborative Study of Newborn Screening for MCADD UKNEQAS UK National External Quality Assessment Service UK NSC UK National Screening Committee Appendix 1: Newborn screening laboratory standards

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They use Coffea Vida during sport or to accompany a visit to the fitness center

K., Oien, K