Duran M - Search Results

1

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ. Loupatty FJ, et al. Among authors: duran m. Mol Genet Metab. 2006 Mar;87(3):243-8. doi: 10.1016/j.ymgme.2005.09.019. Epub 2006 Feb 8. Mol Genet Metab. 2006. PMID: 16466957

2

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. IJlst L, et al. Among authors: duran m. Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434311 Free PMC article.

3

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Among authors: duran m. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.

4

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M. Poll-The BT, et al. Among authors: duran m. Mol Genet Metab. 2004 Apr;81(4):295-9. doi: 10.1016/j.ymgme.2003.11.013. Mol Genet Metab. 2004. PMID: 15059617

5

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Among authors: duran m. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.

6

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ. Dercksen M, et al. Among authors: duran m. Mol Genet Metab. 2016 Dec;119(4):307-310. doi: 10.1016/j.ymgme.2016.10.004. Epub 2016 Oct 13. Mol Genet Metab. 2016. PMID: 27771289

7

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.

8

High incidence of hyperoxaluria in generalized peroxisomal disorders.

van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT. van Woerden CS, et al. Among authors: duran m. Mol Genet Metab. 2006 Aug;88(4):346-50. doi: 10.1016/j.ymgme.2006.03.004. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621644

9

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. van Maldegem BT, et al. Among authors: duran m. JAMA. 2006 Aug 23;296(8):943-52. doi: 10.1001/jama.296.8.943. JAMA. 2006. PMID: 16926354

10

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

Wanders RJ, Duran M, Loupatty FJ. Wanders RJ, et al. Among authors: duran m. J Inherit Metab Dis. 2012 Jan;35(1):5-12. doi: 10.1007/s10545-010-9236-x. Epub 2010 Nov 23. J Inherit Metab Dis. 2012. PMID: 21104317 Free PMC article.

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