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- Title
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Authors
Stadler, Sonja C.; Polanetz, Roman; Maier, Esther M.; Heidenreich, Sylvia C.; Niederer, Birgit; Mayerhofer, Peter U.; Lagler, Florian; Koch, Hans-Georg; Santer, René; Fletcher, Janice M.; Ranieri, Enzo; Das, Anibh M.; Spiekerkötter, Ute; Schwab, Karl O.; Pötzsch, Simone; Marquardt, Iris; Hennermann, Julia B.; Knerr, Ina; Mercimek-Mahmutoglu, Saadet; Kohlschmidt, Nicolai
- Publication
Human Mutation, 2006, Vol 27, Issue 8, p748
- ISSN
1059-7794
- Publication type
Article
- DOI
10.1002/humu.20349