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-Reference-Cited by-同舟云学术

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

Published:2005-06 Issue:2 Volume:85 Page:157-159
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Nennstiel-Ratzel Uta,Arenz Stephan,Maier Esther M.,Knerr Ina,Baumkötter Joachim,Röschinger Wulf,Liebl Bernhard,Hadorn Hans-Beat,Roscher Adelbert A.,von Kries Rüdiger

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children;Iafolla;J. Pediatr.,1994

2. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK;Pollitt;Arch. Dis. Child,1998

3. Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency;Wilcken;Arch. Dis. Child,1994

4. Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards;Matsuraba;Lancet,1991

5. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene;Gregersen;Clin. Chim. Acta,1991

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