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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 3
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37 results
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Page 1
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: Maier EM. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M. Rujano MA, et al. Among authors: Maier EM. J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10. J Exp Med. 2017. PMID: 29127204 Free PMC article.
Issues with European guidelines for phenylketonuria.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Burgard P, et al. Among authors: Maier EM. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. Lancet Diabetes Endocrinol. 2017. PMID: 28842158 No abstract available.
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: Maier EM. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM. Koch J, et al. Among authors: Maier EM. Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5. Orphanet J Rare Dis. 2015. PMID: 25887401 Free PMC article.
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM. Lotz-Havla AS, et al. Among authors: Maier EM. Orphanet J Rare Dis. 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. Orphanet J Rare Dis. 2018. PMID: 30029694 Free PMC article.
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J. Zech M, et al. Among authors: Maier EM. Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839873 Free PMC article.
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S. Karall D, et al. Among authors: Maier EM. Orphanet J Rare Dis. 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. Orphanet J Rare Dis. 2015. PMID: 25888220 Free PMC article.
Multiple foraminal compression in a child with sialidosis type 2.
Bender HU, Borggraefe I, Coppenrath E, Maier EM. Bender HU, et al. Among authors: Maier EM. Neurology. 2019 Jul 23;93(4):168-169. doi: 10.1212/WNL.0000000000007835. Neurology. 2019. PMID: 31332084 No abstract available.
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