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Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.
Kingma SD, Bodamer OA, Wijburg FA. Kingma SD, et al. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987169 Review.
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. J Inherit Metab Dis. 1999 Jun;22(4):442-87. doi: 10.1023/a:1005504223140. J Inherit Metab Dis. 1999. PMID: 10407780 Review.
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. Pediatr Res. 2000 Aug;48(2):151-4. doi: 10.1203/00006450-200008000-00006. Pediatr Res. 2000. PMID: 10926288
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. J Inherit Metab Dis. 2005;28(4):557-62. doi: 10.1007/s10545-005-0557-0. J Inherit Metab Dis. 2005. PMID: 15902559
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. 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
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.
ten Hoedt AE, van Kempen AA, Boelen A, Duran M, Kemper-Proper EA, Oey-Spauwen MJ, Wijburg FA, Bosch AM. ten Hoedt AE, et al. J Inherit Metab Dis. 2007 Nov;30(6):978. doi: 10.1007/s10545-007-0701-0. Epub 2007 Sep 16. J Inherit Metab Dis. 2007. PMID: 17876719
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.
Screening for Fabry disease in high-risk populations: a systematic review.
Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Linthorst GE, et al. J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24. J Med Genet. 2010. PMID: 19797197 Review.
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. J Pediatr. 2010 Jan;156(1):121-7. doi: 10.1016/j.jpeds.2009.07.008. J Pediatr. 2010. PMID: 19800078
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