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107 results

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Page 1
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: ensenauer r. J Inherit Metab Dis. 2021 Jul;44(4):857-870. doi: 10.1002/jimd.12364. Epub 2021 Feb 7. J Inherit Metab Dis. 2021. PMID: 33496032
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: ensenauer r. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N. Märtner EMC, et al. Among authors: ensenauer r. J Inherit Metab Dis. 2021 May;44(3):629-638. doi: 10.1002/jimd.12335. Epub 2020 Dec 15. J Inherit Metab Dis. 2021. PMID: 33274439 Free article.
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.
Guder P, Lotz-Havla AS, Woidy M, Reiß DD, Danecka MK, Schatz UA, Becker M, Ensenauer R, Pagel P, Büttner L, Muntau AC, Gersting SW. Guder P, et al. Among authors: ensenauer r. Biochim Biophys Acta Mol Cell Res. 2019 Mar;1866(3):518-531. doi: 10.1016/j.bbamcr.2018.10.013. Epub 2018 Oct 23. Biochim Biophys Acta Mol Cell Res. 2019. PMID: 30366024 Free article.
Obese Nondiabetic Pregnancies and High Maternal Glycated Hemoglobin at Delivery as an Indicator of Offspring and Maternal Postpartum Risks: The Prospective PEACHES Mother-Child Cohort.
Ensenauer R, Brandlhuber L, Burgmann M, Sobotzki C, Zwafink C, Anzill S, Holdt L, Teupser D, Hasbargen U, Netz H, Roscher AA, von Kries R. Ensenauer R, et al. Clin Chem. 2015 Nov;61(11):1381-90. doi: 10.1373/clinchem.2015.242206. Epub 2015 Aug 11. Clin Chem. 2015. PMID: 26265704
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy SP, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier EM, Mühlhausen C, Haege G, Hoffmann GF, Burgard P, Kölker S. Heringer J, et al. Among authors: ensenauer r. Ann Neurol. 2010 Nov;68(5):743-52. doi: 10.1002/ana.22095. Ann Neurol. 2010. PMID: 21031586 Clinical Trial.
107 results