Benutzer: Gast  Login
Mehr Felder
Einfache Suche
Titel:

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.

Dokumenttyp:
Journal Article; Article
Autor(en):
Nennstiel-Ratzel, U; Arenz, S; Maier, EM; Knerr, I; Baumkötter, J; Röschinger, W; Liebl, B; Hadorn, HB; Roscher, AA; von Kries, R
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.
Zeitschriftentitel:
Mol Genet Metab
Jahr:
2005
Band / Volume:
85
Heft / Issue:
2
Seitenangaben Beitrag:
157-9
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ymgme.2004.12.010
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15896661
Print-ISSN:
1096-7192
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
 BibTeX