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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
Issues with European guidelines for phenylketonuria.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Burgard P, et al. Among authors: maier em. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. Lancet Diabetes Endocrinol. 2017. PMID: 28842158 No abstract available.
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.
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
Lotz-Havla AS, Weiß KJ, Schiergens KA, Brunet T, Kohlhase J, Regenauer-Vandewiele S, Maier EM. Lotz-Havla AS, et al. Among authors: maier em. Orphanet J Rare Dis. 2021 May 12;16(1):215. doi: 10.1186/s13023-021-01847-9. Orphanet J Rare Dis. 2021. PMID: 33980297 Free PMC article.
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.
3.19 Inborn Errors of Metabolism.
Maier EM, Dokoupil K. Maier EM, et al. World Rev Nutr Diet. 2022;124:351-361. doi: 10.1159/000516735. Epub 2022 Mar 3. World Rev Nutr Diet. 2022. PMID: 35240634 Review. No abstract available.
77 results