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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 2
2003 2
2004 1
2005 3
2006 3
2007 1
2008 2
2009 3
2010 1
2011 1
2012 2
2013 2
2014 1
2015 2
2016 2
2017 3
2018 3
2019 3
2020 7
2021 11
2022 6
2023 5
2024 1

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62 results

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Page 1
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Mütze U, et al. Among authors: maier em. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23. Ann Clin Transl Neurol. 2024. PMID: 38263760 Free PMC article.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: maier em. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. doi: 10.1002/jimd.12653. Epub 2023 Jul 23. J Inherit Metab Dis. 2023. PMID: 37429829
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. Among authors: maier em. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S. Grohmann-Held K, et al. Among authors: maier em. J Inherit Metab Dis. 2022 Nov;45(6):1070-1081. doi: 10.1002/jimd.12544. Epub 2022 Aug 22. J Inherit Metab Dis. 2022. PMID: 36054426
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: maier em. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free 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.
62 results