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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: thimm e. 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
Single dose NTBC-treatment of hereditary tyrosinemia type I.
Schlune A, Thimm E, Herebian D, Spiekerkoetter U. Schlune A, et al. Among authors: thimm e. J Inherit Metab Dis. 2012 Sep;35(5):831-6. doi: 10.1007/s10545-012-9450-9. Epub 2012 Feb 4. J Inherit Metab Dis. 2012. PMID: 22307209
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: thimm e. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.
Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M. Zeltner NA, et al. Among authors: thimm e. JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247338 Free PMC article.
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: thimm e. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
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