Kohlmüller D - Search Results

1

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.

Kölker S, Okun JG, Hörster F, Assmann B, Ahlemeyer B, Kohlmüller D, Exner-Camps S, Mayatepek E, Krieglstein J, Hoffmann GF. Kölker S, et al. Among authors: kohlmuller d. J Neurosci Res. 2001 Nov 15;66(4):666-73. doi: 10.1002/jnr.10012. J Neurosci Res. 2001. PMID: 11746386

2

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.

Mayatepek E, Schröder M, Kohlmüller D, Bieger WP, Nützenadel W. Mayatepek E, et al. Among authors: kohlmuller d. Acta Paediatr. 1997 Oct;86(10):1138-40. doi: 10.1111/j.1651-2227.1997.tb14825.x. Acta Paediatr. 1997. PMID: 9350901

3

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.

Mayatepek E, Kohlmüller D. Mayatepek E, et al. Among authors: kohlmuller d. Eur J Pediatr. 1998 Jul;157(7):605-6. doi: 10.1007/s004310050889. Eur J Pediatr. 1998. PMID: 9686827 No abstract available.

4

Transient trimethylaminuria in childhood.

Mayatepek E, Kohlmüller D. Mayatepek E, et al. Among authors: kohlmuller d. Acta Paediatr. 1998 Nov;87(11):1205-7. doi: 10.1080/080352598750031257. Acta Paediatr. 1998. PMID: 9846928

5

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.

Kölker S, Okun JG, Ahlemeyer B, Wyse AT, Hörster F, Wajner M, Kohlmüller D, Mayatepek E, Krieglstein J, Hoffmann GF. Kölker S, et al. Among authors: kohlmuller d. J Neurosci Res. 2002 May 15;68(4):424-31. doi: 10.1002/jnr.10189. J Neurosci Res. 2002. PMID: 11992468

6

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Among authors: kohlmuller d. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891

7

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Schulze A, et al. Among authors: kohlmuller d. Pediatrics. 2003 Jun;111(6 Pt 1):1399-406. doi: 10.1542/peds.111.6.1399. Pediatrics. 2003. PMID: 12777559

8

Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation.

Schulze A, Schmidt C, Kohlmüller D, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: kohlmuller d. Clin Chim Acta. 2003 Sep;335(1-2):137-45. doi: 10.1016/s0009-8981(03)00292-4. Clin Chim Acta. 2003. PMID: 12927695

9

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.

Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: kohlmuller d. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823

10

Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.

Schmidt C, Hofmann U, Kohlmüller D, Mürdter T, Zanger UM, Schwab M, Hoffmann GF. Schmidt C, et al. Among authors: kohlmuller d. J Inherit Metab Dis. 2005;28(6):1109-22. doi: 10.1007/s10545-005-0133-7. J Inherit Metab Dis. 2005. PMID: 16435204

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