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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: schanzer a. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Böğürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D. Hahn A, et al. Among authors: schanzer a. Am J Med Genet A. 2015 Apr;167A(4):744-51. doi: 10.1002/ajmg.a.36982. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708222 Free PMC article.
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M. Lal D, et al. Among authors: schanzer a. PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016. PLoS One. 2016. PMID: 26789268 Free PMC article.
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A. Schänzer A, et al. Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. Epub 2016 Nov 3. Neuromuscul Disord. 2017. PMID: 27927596
Letter to the Editors: Concerning "Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi et al. and Letter to the Editors by Ortolano et al.
Schänzer A, Giese K, Viergutz L, Hahn A. Schänzer A, et al. Mol Genet Metab Rep. 2017 May 16;12:33-34. doi: 10.1016/j.ymgmr.2017.05.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28560178 Free PMC article. No abstract available.
333 results