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