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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Keil S, et al. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520
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. 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.
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: lotz havla as. 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.
34 results