The decision to discontinue screening for carnitine uptake disorder in New Zealand
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12030
Abstract: When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen‐positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since… read more here.
Keywords: uptake disorder; new zealand; carnitine uptake; screening carnitine ... See more keywords
Screening of carnitine and biotin deficiencies on tandem mass spectrometry
Sign Up to like & getrecommendations! Published in 2017 at "Pediatrics International"
DOI: 10.1111/ped.13167
Abstract: It is important to assess pediatric patients for nutritional deficiency when they are receiving specific interventions, such as enteral feeding. We focused on measurement of C0 and 3‐hydroxyisovalerylcarnitine (C5‐OH) with tandem mass spectrometry (MS/MS), which… read more here.
Keywords: mass spectrometry; screening carnitine; mass; carnitine biotin ... See more keywords