Muntau AC - Search Results

1

T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis.

Albert MH, Schuster F, Peters C, Schulze S, Pontz BF, Muntau AC, Röschinger W, Stachel DK, Enders A, Haas RJ, Schmid I. Albert MH, et al. Among authors: muntau ac. Bone Marrow Transplant. 2003 Aug;32(4):443-6. doi: 10.1038/sj.bmt.1704148. Bone Marrow Transplant. 2003. PMID: 12900784

2

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

3

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

4

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

5

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

6

Age-related reference values for serum selenium concentrations in infants and children.

Muntau AC, Streiter M, Kappler M, Röschinger W, Schmid I, Rehnert A, Schramel P, Roscher AA. Muntau AC, et al. Clin Chem. 2002 Mar;48(3):555-60. Clin Chem. 2002. PMID: 11861447

7

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.

8

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. Maier EM, et al. Among authors: muntau ac. Clin Genet. 2009 Aug;76(2):179-87. doi: 10.1111/j.1399-0004.2009.01217.x. Clin Genet. 2009. PMID: 19780764

9

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. Ensenauer R, et al. Among authors: muntau ac. Clin Chem. 2011 Apr;57(4):623-6. doi: 10.1373/clinchem.2010.151134. Epub 2011 Feb 18. Clin Chem. 2011. PMID: 21335445 Free article.

10

[Model project for updating neonatal screening in Bavaria: concept and initial results].

Liebl B, Fingerhut R, Röschinger W, Muntau A, Knerr I, Olgemöller B, Zapf A, Roscher AA. Liebl B, et al. Gesundheitswesen. 2000 Apr;62(4):189-95. doi: 10.1055/s-2000-10856. Gesundheitswesen. 2000. PMID: 10844815 German.

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