Merritt, J Lawrence

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. [electronic resource] - Molecular genetics and metabolism Apr 2014 - 484-92 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

1096-7206

10.1016/j.ymgme.2014.01.009 doi


Acyl-CoA Dehydrogenase, Long-Chain--deficiency
Carnitine--analogs & derivatives
Congenital Bone Marrow Failure Syndromes
DNA Mutational Analysis
Demography
Fatty Acids--metabolism
Female
Genotype
Humans
Infant
Infant, Newborn
Lipid Metabolism, Inborn Errors--diagnosis
Male
Mitochondrial Diseases--diagnosis
Muscular Diseases--diagnosis
Neonatal Screening--methods
Phenotype
Reproducibility of Results