The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

van Maldegem, B T

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. [electronic resource] - Journal of inherited metabolic disease 2005 - 557-62 p. digital

Publication Type: Journal Article

0141-8955

10.1007/s10545-005-0557-0 doi


Alleles
Butyryl-CoA Dehydrogenase--deficiency
Carnitine--blood
Fatty Acids--metabolism
Genetic Predisposition to Disease
Genetic Variation
Heterozygote
Homozygote
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors--metabolism
Neonatal Screening
Oxygen--metabolism
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Time Factors