Wijburg FA - Search Results

1

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: wijburg fa. Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32626714 Free PMC article.

2

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.

Houten SM, van Woerden CS, Wijburg FA, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: wijburg fa. Eur J Hum Genet. 2003 Feb;11(2):196-200. doi: 10.1038/sj.ejhg.5200933. Eur J Hum Genet. 2003. PMID: 12634869

3

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

4

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR. van Woerden CS, et al. Among authors: wijburg fa. Kidney Int. 2004 Aug;66(2):746-52. doi: 10.1111/j.1523-1755.2004.00796.x. Kidney Int. 2004. PMID: 15253729 Free article.

5

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

6

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Bosch AM, et al. Among authors: wijburg fa. Hum Mutat. 2005 May;25(5):502. doi: 10.1002/humu.9330. Hum Mutat. 2005. PMID: 15841485

7

Long-chain fatty acid oxidation during early human development.

Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attié-Bitach T. Oey NA, et al. Among authors: wijburg fa. Pediatr Res. 2005 Jun;57(6):755-9. doi: 10.1203/01.PDR.0000161413.42874.74. Epub 2005 Apr 21. Pediatr Res. 2005. PMID: 15845636

8

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

9

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

10

L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism.

Oey NA, van Vlies N, Wijburg FA, Wanders RJ, Attie-Bitach T, Vaz FM. Oey NA, et al. Among authors: wijburg fa. Placenta. 2006 Aug;27(8):841-6. doi: 10.1016/j.placenta.2005.10.002. Epub 2005 Nov 18. Placenta. 2006. PMID: 16300828

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