Duran M - Search Results

1

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: duran m. Clin Chim Acta. 2000 Aug;298(1-2):55-68. doi: 10.1016/s0009-8981(00)00268-0. Clin Chim Acta. 2000. PMID: 10876004

2

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.

Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, Tavares de Almeida I, Duran M, Jakobs C, Wanders RJ. Ventura FV, et al. Among authors: duran m. Clin Chim Acta. 1999 Mar;281(1-2):1-17. doi: 10.1016/s0009-8981(98)00188-0. Clin Chim Acta. 1999. PMID: 10217622

3

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Wanders RJ, Zoeters PH, Schutgens RB, de Klerk JB, Duran M, Wadman SK, van Sprang FJ, Hemmes AM, Voorbrood BS. Wanders RJ, et al. Among authors: duran m. Clin Chim Acta. 1990 Aug 31;189(3):327-34. doi: 10.1016/0009-8981(90)90314-i. Clin Chim Acta. 1990. PMID: 2225463

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. Among authors: duran m. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

5

Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.

Loupatty FJ, Ruiter JP, IJlst L, Duran M, Wanders RJ. Loupatty FJ, et al. Among authors: duran m. Clin Chem. 2004 Aug;50(8):1447-50. doi: 10.1373/clinchem.2004.033142. Epub 2004 Jun 10. Clin Chem. 2004. PMID: 15192029 Free article. No abstract available.

6

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. Spiekerkoetter U, et al. Among authors: duran m. Pediatr Res. 2005 Jun;57(6):760-4. doi: 10.1203/01.PDR.0000157915.26049.47. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774826

7

Secondary carnitine deficiency.

Duran M, Loof NE, Ketting D, Dorland L. Duran M, et al. J Clin Chem Clin Biochem. 1990 May;28(5):359-63. J Clin Chem Clin Biochem. 1990. PMID: 2199597 Review.

8

Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase.

van Pelt J, Hokke CH, Dorland L, Duran M, Kamerling JP, Vliegenthart JF. van Pelt J, et al. Among authors: duran m. Clin Chim Acta. 1990 Jan 31;187(1):55-60. doi: 10.1016/0009-8981(90)90261-p. Clin Chim Acta. 1990. PMID: 2317928

9

Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.

Duran M, Ketting D, van Vossen R, Beckeringh TE, Dorland L, Bruinvis L, Wadman SK. Duran M, et al. Clin Chim Acta. 1985 Nov 15;152(3):253-60. doi: 10.1016/0009-8981(85)90100-7. Clin Chim Acta. 1985. PMID: 4064333

10

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

Niezen-Koning KE, van Spronsen FJ, Ijlst L, Wanders RJ, Brivet M, Duran M, Reijngoud DJ, Heymans HS, Smit GP. Niezen-Koning KE, et al. Among authors: duran m. J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775. J Inherit Metab Dis. 1995. PMID: 7564255 No abstract available.

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