Muntau AC - Search Results

1

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: 10.1080/08035320600618809. Acta Paediatr Suppl. 2006. PMID: 16720462

2

The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies.

Holzinger A, Muntau A, Mayerhofer P, Kammerer S, Albet S, Bugaut M, Roscher AA. Holzinger A, et al. FEBS Lett. 1998 Aug 14;433(1-2):179-83. doi: 10.1016/s0014-5793(98)00873-4. FEBS Lett. 1998. PMID: 9738957 Free article.

3

The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes.

Muntau AC, Holzinger A, Mayerhofer PU, Gärtner J, Roscher AA, Kammerer S. Muntau AC, et al. Biochem Biophys Res Commun. 2000 Feb 24;268(3):704-10. doi: 10.1006/bbrc.2000.2193. Biochem Biophys Res Commun. 2000. PMID: 10679269

4

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

Röschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Röschinger W, et al. Among authors: muntau ac. Mol Genet Metab. 2000 Mar;69(3):213-22. doi: 10.1006/mgme.1999.2955. Mol Genet Metab. 2000. PMID: 10767176

5

Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.

Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Gloeckner CJ, et al. Among authors: muntau ac. Biochem Biophys Res Commun. 2000 Apr 29;271(1):144-50. doi: 10.1006/bbrc.2000.2572. Biochem Biophys Res Commun. 2000. PMID: 10777694

6

Genomic organization, expression analysis, and chromosomal localization of the mouse PEX3 gene encoding a peroxisomal assembly protein.

Muntau AC, Mayerhofer PU, Albet S, Schmid TE, Bugaut M, Roscher AA, Kammerer S. Muntau AC, et al. Biol Chem. 2000 Apr;381(4):337-42. doi: 10.1515/BC.2000.044. Biol Chem. 2000. PMID: 10839463 Free article.

7

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.

Röschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ, Roscher AA. Röschinger W, et al. Among authors: muntau ac. Clin Chim Acta. 2000 Aug;298(1-2):55-68. doi: 10.1016/s0009-8981(00)00268-0. Clin Chim Acta. 2000. PMID: 10876004

8

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.

9

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Muntau AC, et al. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

10

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

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