van Maldegem BT - Search Results

1

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

Cox-Brinkman J, van Breemen MJ, van Maldegem BT, Bour L, Donker WE, Hollak CE, Wijburg FA, Aerts JM. Cox-Brinkman J, et al. Among authors: van maldegem bt. J Inherit Metab Dis. 2008 Dec;31(6):745-52. doi: 10.1007/s10545-008-0873-2. Epub 2008 Oct 15. J Inherit Metab Dis. 2008. PMID: 18850301

2

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

3

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

van Maldegem BT, Wanders RJ, Wijburg FA. van Maldegem BT, et al. 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.

4

Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.

van Kuilenburg AB, van Maldegem BT, Abeling NG, Wijburg FA, Duran M. van Kuilenburg AB, et al. Among authors: van maldegem bt. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1251-5. doi: 10.1080/15257770600894634. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065101

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

6

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

7

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

8

High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.

van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA. van Maldegem BT, et al. Neuropediatrics. 2011 Feb;42(1):13-7. doi: 10.1055/s-0031-1275342. Epub 2011 Apr 15. Neuropediatrics. 2011. PMID: 21500142

9

Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment.

van Spronsen FJ, Bijleveld CM, van Maldegem BT, Wijburg FA. van Spronsen FJ, et al. Among authors: van maldegem bt. J Pediatr Gastroenterol Nutr. 2005 Jan;40(1):90-3. doi: 10.1097/00005176-200501000-00017. J Pediatr Gastroenterol Nutr. 2005. PMID: 15625434 No abstract available.

10

[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. van Maldegem BT, et al. Ned Tijdschr Geneeskd. 2008 Jul 26;152(30):1678-85. Ned Tijdschr Geneeskd. 2008. PMID: 18714522 Dutch.

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