| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10832609 | Molecular Genetics and Metabolism | 2013 | 5 Pages |
Abstract
GHB concentration in all 2831 dried blood spot cards was well below the lowest concentration of affected children. These data provide proof-of-principle for screening methodology to detect SSADH deficiency with applicability to newborn screening and earlier diagnosis.
Keywords
DBSIMDsGamma-hydroxybutyric acid (GHB)UPLCMRMPKUPHEESIGHBphenylketonuriaMS/MSSuccinic semialdehyde dehydrogenaseUPLC–MS/MSInherited metabolic disordersGamma aminobutyric acidGamma-aminobutyric acid (GABA)gamma-hydroxybutyric acidTandem mass spectrometrySSADHNewborn screeningPhenylalaninedried blood spotsmultiple reaction monitoringUltrahigh pressure liquid chromatographySuccinic semialdehyde dehydrogenase deficiencyGABAelectrospray ionization
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Authors
Sabrina Forni, Phillip L. Pearl, K. Michael Gibson, Yuezhou Yu, Lawrence Sweetman,