Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Author:

Yusupov Roman,Finegold David N.,Naylor Edwin W.,Sahai Inderneel,Waisbren Susan,Levy Harvey L.

Publisher

Elsevier BV

Subject

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

Reference42 articles.

1. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening;Nennstiel-Ratzel;Mol. Genet. Metab.,2005

2. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency;Andresen;Am. J. Hum. Genet.,2001

3. Mitochondrial fatty acid oxidation disorders;Roe,2001

4. Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome;Santer;Eur. J. Pediatr.,1990

5. Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy, Evaluation of the role of MCAD deficiency in sudden infant death;Lecoq;C. R. Seances Soc. Biol. Fil.,1995

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