Article
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.
Molecular genetics and metabolism - 1 Jun 2005
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
Abstract excerpt
The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort...
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