Kölker, S

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). [electronic resource] - Journal of inherited metabolic disease Feb 2007 - 5-22 p. digital

Publication Type: Guideline; Journal Article

1573-2665

10.1007/s10545-006-0451-4 doi


Child
Child, Preschool
Female
Glutaryl-CoA Dehydrogenase--deficiency
Humans
Infant
Infant, Newborn
Mass Spectrometry
Metabolism, Inborn Errors--diagnosis
Mutation
Neonatal Screening
Phenotype
Risk