Duran M - Search Results

1

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Ferdinandusse S, Barker S, Lachlan K, Duran M, Waterham HR, Wanders RJ, Hammans S. Ferdinandusse S, et al. Among authors: duran m. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255. J Neurol Neurosurg Psychiatry. 2010. PMID: 20185470 Free article.

2

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: duran m. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

3

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

4

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Brites P, Motley AM, Gressens P, Mooyer PA, Ploegaert I, Everts V, Evrard P, Carmeliet P, Dewerchin M, Schoonjans L, Duran M, Waterham HR, Wanders RJ, Baes M. Brites P, et al. Among authors: duran m. Hum Mol Genet. 2003 Sep 15;12(18):2255-67. doi: 10.1093/hmg/ddg236. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915479

5

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Poll-The BT, et al. Among authors: duran m. Am J Med Genet A. 2004 May 1;126A(4):333-8. doi: 10.1002/ajmg.a.20664. Am J Med Genet A. 2004. PMID: 15098231

6

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice.

Ferdinandusse S, Denis S, Overmars H, Van Eeckhoudt L, Van Veldhoven PP, Duran M, Wanders RJ, Baes M. Ferdinandusse S, et al. Among authors: duran m. J Biol Chem. 2005 May 13;280(19):18658-66. doi: 10.1074/jbc.M414311200. Epub 2005 Mar 15. J Biol Chem. 2005. PMID: 15769750 Free article.

7

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Waterham HR, de Koning TJ, Rubio E, Wijburg FA. van Maldegem BT, et al. Among authors: duran m. J Pediatr. 2010 Jan;156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. J Pediatr. 2010. PMID: 19800078

8

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Waterham HR, Wijburg FA. van Maldegem BT, et al. Among authors: duran m. Pediatr Res. 2010 Mar;67(3):304-8. doi: 10.1203/PDR.0b013e3181cbd57b. Pediatr Res. 2010. PMID: 19952864 Clinical Trial.

9

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. Among authors: duran m. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.

10

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G. Diekman EF, et al. Among authors: duran m. JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31. JIMD Rep. 2013. PMID: 23430487 Free PMC article.

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