Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Author:

Miller Marcus J.,Burrage Lindsay C.,Gibson James B.,Strenk Meghan E.,Lose Edward J.,Bick David P.,Elsea Sarah H.,Sutton V. Reid,Sun Qin,Graham Brett H.,Craigen William J.,Zhang Victor Wei,Wong Lee-Jun C.

Funder

Medical Genetics Research Fellowship Program

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference27 articles.

1. Cloning of human very-long-chain acyl-coenzyme a dehydrogenase and molecular characterization of its deficiency in two patients;Aoyama;Am. J. Hum. Genet.,1995

2. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood;Strauss;Proc. Natl. Acad. Sci. U. S. A.,1995

3. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia;Hale;Pediatr. Res.,1985

4. Fatty acid oxidation disorders: outcome and long-term prognosis;Wilcken;J. Inherit. Metab. Dis.,2010

5. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop;Spiekerkoetter;J. Inherit. Metab. Dis.,2009

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