Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency

Molecular Genetics and Metabolism

Volumn 109, Issue 3, 2013, Pages 255-259

  Forni, Sabrina ^a   Pearl, Phillip L ^b   Gibson, K Michael ^c   Yu, Yuezhou ^b   Sweetman, Lawrence ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

Gamma aminobutyric acid (GABA); Gamma hydroxybutyric acid (GHB); Newborn screening; Rapid neonatal detection; Succinic semialdehyde dehydrogenase deficiency; UPLC MS MS

Indexed keywords

4 HYDROXYBUTYRIC ACID; METHANOL; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ACIDURIA; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME BLOOD LEVEL; FEASIBILITY STUDY; HUMAN; IONIZATION; LIMIT OF QUANTITATION; METABOLIC DISORDER; NEWBORN DISEASE; NEWBORN SCREENING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

EID: 84891372549     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.002     Document Type: Article

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