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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.
Nennstiel-Ratzel U, Arenz S, Maier EM, Knerr I, Baumkötter J, Röschinger W, Liebl B, Hadorn HB, Roscher AA, von Kries R. Nennstiel-Ratzel U, et al. Among authors: maier em. Mol Genet Metab. 2005 Jun;85(2):157-9. doi: 10.1016/j.ymgme.2004.12.010. Epub 2005 Feb 12. Mol Genet Metab. 2005. PMID: 15896661
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: maier em. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865
Management of three preterm infants with phenylketonuria.
Weiss K, Lotz-Havla A, Dokoupil K, Maier EM. Weiss K, et al. Among authors: maier em. Nutrition. 2020 Mar;71:110619. doi: 10.1016/j.nut.2019.110619. Epub 2019 Oct 17. Nutrition. 2020. PMID: 31864970
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J, Moser M, Sztatecsny C, Lotz-Havla AS, Maier EM, Hizli B, Schinner R, Kümpfel T, Strupp M, Bremova-Ertl T, Schneider SA. Havla J, et al. Among authors: maier em. J Neurol. 2020 Jul;267(7):2070-2082. doi: 10.1007/s00415-020-09796-2. Epub 2020 Mar 28. J Neurol. 2020. PMID: 32222928 Free PMC article.
75 results