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Items: 1 to 20 of 32

1.

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.

Orphanet J Rare Dis. 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7.

2.

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.

Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5.

3.

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

Jank JM, Maier EM, Reiβ DD, Haslbeck M, Kemter KF, Truger MS, Sommerhoff CP, Ferdinandusse S, Wanders RJ, Gersting SW, Muntau AC.

PLoS One. 2014 Apr 9;9(4):e93852. doi: 10.1371/journal.pone.0093852. eCollection 2014. Erratum in: PLoS One. 2014;9(8):e107094.

4.

What are effects of a spaced activation of virtual patients in a pediatric course?

Maier EM, Hege I, Muntau AC, Huber J, Fischer MR.

BMC Med Educ. 2013 Mar 28;13:45. doi: 10.1186/1472-6920-13-45.

5.

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier EM, Lücke T, Hoffmann GF, Müller E, Burgard P, Kölker S.

J Inherit Metab Dis. 2013 May;36(3):525-33. doi: 10.1007/s10545-012-9517-7. Epub 2012 Sep 13.

PMID:
22971958
6.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C, Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P.

Mol Genet Metab. 2012 Sep;107(1-2):72-80. doi: 10.1016/j.ymgme.2012.03.021. Epub 2012 Apr 4.

PMID:
22520952
7.

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Ensenauer R, Fingerhut R, Maier EM, Polanetz R, Olgemöller B, Röschinger W, Muntau AC.

Clin Chem. 2011 Apr;57(4):623-6. doi: 10.1373/clinchem.2010.151134. Epub 2011 Feb 18.

8.

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.

Ann Neurol. 2010 Nov;68(5):743-52. doi: 10.1002/ana.22095.

PMID:
21031586
9.

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].

Maier EM, Pongratz J, Muntau AC, Liebl B, Nennstiel-Ratzel U, Busch U, Fingerhut R, Olgemöller B, Roscher AA, Röschinger W.

Clin Genet. 2009 Aug;76(2):179-87. doi: 10.1111/j.1399-0004.2009.01217.x. Erratum in: Clin Genet. 2010 Mar;77(3):304.

PMID:
19780764
10.

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JB, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S.

J Inherit Metab Dis. 2009 Oct;32(5):630-9. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. Erratum in: J Inherit Metab Dis. 2009 Dec;32(6):762-3.

PMID:
19642010
11.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.

Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11.

12.

[Breaking bad news--a video-based training unit for medical students].

Kopecky-Wenzel M, Maier EM, Muntau AC, Reinhardt D, Frank R.

Z Kinder Jugendpsychiatr Psychother. 2009 Mar;37(2):139-44. doi: 10.1024/1422-4917.37.2.139. German.

PMID:
19402001
13.

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC.

Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18.

14.

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Maier EM, Mayerhofer PU, Asheuer M, Köhler W, Rothe M, Muntau AC, Roscher AA, Holzinger A, Aubourg P, Berger J.

Biochem Biophys Res Commun. 2008 Dec 5;377(1):176-80. doi: 10.1016/j.bbrc.2008.09.092. Epub 2008 Oct 1.

PMID:
18834860
15.

Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.

Fingerhut R, Simon E, Maier EM, Hennermann JB, Wendel U.

Clin Chem. 2008 Oct;54(10):1739-41. doi: 10.1373/clinchem.2008.105270. No abstract available.

16.

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F.

J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27.

PMID:
18563634
17.

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF.

Pediatr Res. 2007 Sep;62(3):357-63.

PMID:
17622945
18.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W.

Hum Mutat. 2006 Aug;27(8):748-59.

PMID:
16835865
19.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC.

Acta Paediatr Suppl. 2006 Apr;95(451):30-8.

PMID:
16720462
20.

Very mild cases of Rett syndrome with skewed X inactivation.

Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J.

J Med Genet. 2006 Oct;43(10):814-6. Epub 2006 May 11.

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