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

Autor: van Maldegem BT; Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. b.van.maldegem@gelre.nl, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA

Publikováno v: Neuropediatrics [Neuropediatrics] 2011 Feb; Vol. 42 (1), pp. 13-7. Date of Electronic Publication: 2011 Apr 15.

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.

Autor: van Maldegem BT; Department of Pediatrics, University of Amsterdam, Amsterdam, the Netherlands. B.van.Maldegem@gelre.nl, Duran M, Wanders RJ, Waterham HR, Wijburg FA

Publikováno v: Pediatric research [Pediatr Res] 2010 Mar; Vol. 67 (3), pp. 304-8.

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

Autor: Cox-Brinkman J; Department of Pediatrics, G8-205, Academic Medical Center, PO Box 22660, 1100 DD, Amsterdam, The Netherlands., van Breemen MJ, van Maldegem BT, Bour L, Donker WE, Hollak CE, Wijburg FA, Aerts JM

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2008 Dec; Vol. 31 (6), pp. 745-52. Date of Electronic Publication: 2008 Oct 15.

[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia].

Autor: Williams M; Erasmus MC-Centrum, afd. Klinische Genetica, Rotterdam. m.williams@erasmusmc.nl, Huijmans JG, Duran M, de Klerk JB, van Maldegem BT, Poll-The BT

Publikováno v: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2007 May 26; Vol. 151 (21), pp. 1191-6.

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

Autor: van Kuilenburg AB; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl, van Maldegem BT, Abeling NG, Wijburg FA, Duran M

Publikováno v: Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2006; Vol. 25 (9-11), pp. 1251-5.