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Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D). Inclusion of OA into newborn screening compatibility with existing analytical procedures is necessary.OA was eluted from dried blood spots with methanol containing deuterated [1,3– 15 N 2 ] OA as internal standard. Quantification by tandem mass spectrometry was accomplished without...
Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM 276700).We developed a blood spot test to facilitate collection and transport of samples. Furthermore, the test material can be used for determination of other...
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