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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
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.
Schiergens KA, Weiss KJ, Röschinger W, Lotz-Havla AS, Schmitt J, Dalla Pozza R, Ulrich S, Odenwald B, Kreuder J, Maier EM. Schiergens KA, et al. Among authors: maier em. Mol Genet Metab Rep. 2021 Jun 12;28:100776. doi: 10.1016/j.ymgmr.2021.100776. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34178604 Free PMC article.
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, Preisel M, Schiergens KA, Konstantopoulou V, Röschinger W, Häberle J, Schmitt-Mechelke T, Wortmann SB, Fingerhut R. Spenger J, et al. Among authors: maier em. Int J Neonatal Screen. 2021 Jun 18;7(2):32. doi: 10.3390/ijns7020032. Int J Neonatal Screen. 2021. PMID: 34207159 Free PMC article.
79 results