Wijburg FA - Search Results

1

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand.

Huidekoper HH, Duran M, Turkenburg M, Ackermans MT, Sauerwein HP, Wijburg FA. Huidekoper HH, et al. Among authors: wijburg fa. Eur J Pediatr. 2008 Aug;167(8):859-65. doi: 10.1007/s00431-007-0598-5. Epub 2007 Oct 13. Eur J Pediatr. 2008. PMID: 17934759

2

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: wijburg fa. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

3

Subnormal response of plasma glucose concentration to glucagon despite adequate glycogenolysis: the importance of kinetic measurements.

Sprangers F, Wijburg FA, Romijn JA, Ackermans MT, Hoekstra JH, Heymans HS, Sauerwein HP. Sprangers F, et al. Among authors: wijburg fa. Eur J Pediatr. 2001 Mar;160(3):185-8. doi: 10.1007/s004319900362. Eur J Pediatr. 2001. PMID: 11277381

4

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

5

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

6

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Exil V, Duran M, Wijburg FA, Wanders RJ, Strauss AW. Spiekerkoetter U, et al. Among authors: wijburg fa. Eur J Clin Invest. 2004 Mar;34(3):191-6. doi: 10.1111/j.1365-2362.2004.01308.x. Eur J Clin Invest. 2004. PMID: 15025677

7

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA. Huidekoper HH, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Mar;84(3):265-72. doi: 10.1016/j.ymgme.2004.09.013. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15694176

8

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: wijburg fa. 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

9

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

10

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: wijburg fa. 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

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