Article
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Molecular genetics and metabolism - 1 Apr 2014
Merritt J Lawrence, Vedal Sverre, Abdenur Jose E, Au Sylvia M, Barshop Bruce A, Feuchtbaum Lisa, Harding Cary O, Hermerath Cheryl, Lorey Fred, Sesser David E, Thompson John D, Yu Arthur
Abstract excerpt
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder with widely varying presentations that has presented a significant challenge to newborn screening (NBS). The Western States Regional Genetics Services Collaborative developed a workgroup to study infants...
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