Wijburg FA - Search Results

1

Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M. Bok LA, et al. Among authors: wijburg fa. Pediatrics. 2003 Nov;112(5):1152-5. doi: 10.1542/peds.112.5.1152. Pediatrics. 2003. PMID: 14595061

2

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.

den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA. den Boer ME, et al. Among authors: wijburg fa. Pediatrics. 2002 Jan;109(1):99-104. doi: 10.1542/peds.109.1.99. Pediatrics. 2002. PMID: 11773547

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: wijburg fa. JAMA. 2006 Aug 23;296(8):943-52. doi: 10.1001/jama.296.8.943. JAMA. 2006. PMID: 16926354

4

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: wijburg fa. J Pediatr. 2010 Jan;156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. J Pediatr. 2010. PMID: 19800078

5

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: wijburg fa. Pediatr Res. 2010 Mar;67(3):304-8. doi: 10.1203/PDR.0b013e3181cbd57b. Pediatr Res. 2010. PMID: 19952864 Clinical Trial.

6

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.

den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA. den Boer ME, et al. Among authors: wijburg fa. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. J Pediatr. 2003. PMID: 12838198

7

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.

Spaan AN, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ, Waterham HR. Spaan AN, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Dec;86(4):441-7. doi: 10.1016/j.ymgme.2005.07.014. Epub 2005 Sep 13. Mol Genet Metab. 2005. PMID: 16165386

8

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

van Maldegem BT, Wanders RJ, Wijburg FA. van Maldegem BT, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2010 Oct;33(5):507-11. doi: 10.1007/s10545-010-9080-z. Epub 2010 Apr 29. J Inherit Metab Dis. 2010. PMID: 20429031 Free PMC article. Review.

9

High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease.

Oey NA, den Boer ME, Ruiter JP, Wanders RJ, Duran M, Waterham HR, Boer K, van der Post JA, Wijburg FA. Oey NA, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2003;26(4):385-92. doi: 10.1023/a:1025163204165. J Inherit Metab Dis. 2003. PMID: 12971426

10

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

van Maldegem BT, Waterham HR, Duran M, van der Vlies M, van Woerden CS, Bobu LL, Wanders RJ, Wijburg FA. van Maldegem BT, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2005;28(4):557-62. doi: 10.1007/s10545-005-0557-0. J Inherit Metab Dis. 2005. PMID: 15902559

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