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Document type:
Journal Article; Article 
Author(s):
Nennstiel-Ratzel, U; Arenz, S; Maier, EM; Knerr, I; Baumkötter, J; Röschinger, W; Liebl, B; Hadorn, HB; Roscher, AA; von Kries, R 
Title:
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. 
Abstract:
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 (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD. 
Journal title abbreviation:
Mol Genet Metab 
Year:
2005 
Journal volume:
85 
Journal issue:
Pages contribution:
157-9 
Language:
eng 
Print-ISSN:
1096-7192 
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin