Muntau AC - Search Results

1

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. Maier EM, et al. Among authors: muntau ac. Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18. Hum Mol Genet. 2009. PMID: 19224950 Free PMC article.

2

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA. Muntau AC, et al. Am J Hum Genet. 2000 Oct;67(4):967-75. doi: 10.1086/303071. Epub 2000 Aug 24. Am J Hum Genet. 2000. PMID: 10958759 Free PMC article.

3

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Holzinger A, et al. Among authors: muntau ac. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/10.12.1299. Hum Mol Genet. 2001. PMID: 11406611

4

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.

Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA. Maier EM, et al. Among authors: muntau ac. Ann Neurol. 2002 Nov;52(5):683-8. doi: 10.1002/ana.10376. Ann Neurol. 2002. PMID: 12402273

5

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Muntau AC, et al. N Engl J Med. 2002 Dec 26;347(26):2122-32. doi: 10.1056/NEJMoa021654. N Engl J Med. 2002. PMID: 12501224 Free article. Clinical Trial.

6

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. Maier EM, et al. Among authors: muntau ac. Acta Paediatr Suppl. 2006 Apr;95(451):30-8. doi: 10.1111/j.1651-2227.2006.tb02386.x. Acta Paediatr Suppl. 2006. PMID: 16720462

7

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. Stadler SC, et al. Among authors: muntau ac. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865

8

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC. Gersting SW, et al. Among authors: muntau ac. Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5. Am J Hum Genet. 2008. PMID: 18538294 Free PMC article.

9

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. Maier EM, et al. Among authors: muntau ac. Biochem Biophys Res Commun. 2008 Dec 5;377(1):176-80. doi: 10.1016/j.bbrc.2008.09.092. Epub 2008 Oct 1. Biochem Biophys Res Commun. 2008. PMID: 18834860

10

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

Kopecky-Wenzel M, Maier EM, Muntau AC, Reinhardt D, Frank R. Kopecky-Wenzel M, et al. Among authors: muntau ac. Z Kinder Jugendpsychiatr Psychother. 2009 Mar;37(2):139-44. doi: 10.1024/1422-4917.37.2.139. Z Kinder Jugendpsychiatr Psychother. 2009. PMID: 19402001 German.

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