Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed

Molecular Genetics and Metabolism

Volumn 86, Issue 3, 2005, Pages 417-420

  Gallagher, Renata C ^a   Cowan, Tina M ^a   Goodman, Stephen I ^b   Enns, Gregory M ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Children's Hospital Colorado   (United States)

Author keywords

Dystonia; Glutaric aciduria type I; Low excretor; Newborn screening; Tandem mass spectrometry

Indexed keywords

CARNITINE DERIVATIVE; GLUTARYL CARNITINE; GLUTARYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; DIAGNOSTIC ERROR; DISABILITY; DYSTONIA; ENZYME DEFICIENCY; HUMAN; MALE; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; SCREENING; TANDEM MASS SPECTROMETRY;

CARNITINE; CELLS, CULTURED; FIBROBLASTS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; NEONATAL SCREENING; RETROSPECTIVE STUDIES;

EID: 27644574392     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.08.005     Document Type: Article

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