Wijburg FA - Search Results

1

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Knottnerus SJG, Nijmeijer SCM, IJlst L, Te Brinke H, van Vlies N, Wijburg FA. Knottnerus SJG, et al. Among authors: wijburg fa. Ann Neurol. 2017 Nov;82(5):686-696. doi: 10.1002/ana.25069. Epub 2017 Oct 26. Ann Neurol. 2017. PMID: 29023963 Free PMC article.

2

Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, IJlst L. Wanders RJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1999 Jun;22(4):442-87. doi: 10.1023/a:1005504223140. J Inherit Metab Dis. 1999. PMID: 10407780 Review.

3

Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.

den Boer ME, Ijlst L, Wijburg FA, Oostheim W, van Werkhoven MA, van Pampus MG, Heymans HS, Wanders RJ. den Boer ME, et al. Among authors: wijburg fa. Pediatr Res. 2000 Aug;48(2):151-4. doi: 10.1203/00006450-200008000-00006. Pediatr Res. 2000. PMID: 10926288

4

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

5

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

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

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.

Oey NA, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ. Oey NA, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Jun;85(2):121-4. doi: 10.1016/j.ymgme.2005.02.012. Epub 2005 Apr 1. Mol Genet Metab. 2005. PMID: 15896656

8

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

9

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

10

Fatty acid oxidation in the human fetus: implications for fetal and adult disease.

Oey NA, Ruiter JP, Attié-Bitach T, Ijlst L, Wanders RJ, Wijburg FA. Oey NA, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2006 Feb;29(1):71-5. doi: 10.1007/s10545-006-0199-x. J Inherit Metab Dis. 2006. PMID: 16601871

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