van Spronsen FJ - Search Results

1

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, Heiner-Fokkema R, Sival DA, Lunsing RJ, Arjune S, Kosterink JG, van Spronsen FJ. Hitzert MM, et al. Among authors: van spronsen fj. Pediatrics. 2012 Oct;130(4):e1005-10. doi: 10.1542/peds.2011-3330. Epub 2012 Sep 17. Pediatrics. 2012. PMID: 22987873

2

Safe and unsafe duration of fasting for children with MCAD deficiency.

Derks TG, van Spronsen FJ, Rake JP, van der Hilst CS, Span MM, Smit GP. Derks TG, et al. Among authors: van spronsen fj, van der hilst cs. Eur J Pediatr. 2007 Jan;166(1):5-11. doi: 10.1007/s00431-006-0186-0. Epub 2006 Jun 21. Eur J Pediatr. 2007. PMID: 16788829

3

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

Verbruggen KT, Knijff WA, Soorani-Lunsing RJ, Sijens PE, Verhoeven NM, Salomons GS, Goorhuis-Brouwer SM, van Spronsen FJ. Verbruggen KT, et al. Among authors: van spronsen fj. Eur J Pediatr. 2007 Sep;166(9):921-5. doi: 10.1007/s00431-006-0340-8. Epub 2006 Dec 21. Eur J Pediatr. 2007. PMID: 17186272

4

Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

Verbruggen KT, Sijens PE, Schulze A, Lunsing RJ, Jakobs C, Salomons GS, van Spronsen FJ. Verbruggen KT, et al. Among authors: van spronsen fj. Mol Genet Metab. 2007 Jul;91(3):294-6. doi: 10.1016/j.ymgme.2007.03.006. Epub 2007 Apr 26. Mol Genet Metab. 2007. PMID: 17466557

5

MR spectroscopy of the brain in Leigh syndrome.

Sijens PE, Smit GP, Rödiger LA, van Spronsen FJ, Oudkerk M, Rodenburg RJ, Lunsing RJ. Sijens PE, et al. Among authors: van spronsen fj. Brain Dev. 2008 Oct;30(9):579-83. doi: 10.1016/j.braindev.2008.01.011. Epub 2008 Mar 10. Brain Dev. 2008. PMID: 18329833

6

Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure.

Sijens PE, Alkefaji H, Lunsing RJ, van Spronsen FJ, Meiners LC, Oudkerk M, Verkade HJ. Sijens PE, et al. Among authors: van spronsen fj. Eur Radiol. 2008 Nov;18(11):2601-9. doi: 10.1007/s00330-008-1049-z. Epub 2008 May 21. Eur Radiol. 2008. PMID: 18493780

7

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

Verbruggen KT, Meiners LC, Sijens PE, Lunsing RJ, van Spronsen FJ, Brouwer OF. Verbruggen KT, et al. Among authors: van spronsen fj. Eur J Paediatr Neurol. 2009 Mar;13(2):181-90. doi: 10.1016/j.ejpn.2008.04.014. Epub 2008 Jun 24. Eur J Paediatr Neurol. 2009. PMID: 18579422

8

Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood.

Bruggink JL, van Spronsen FJ, Wijnberg-Williams BJ, Bos AF. Bruggink JL, et al. Among authors: van spronsen fj. Early Hum Dev. 2009 Jul;85(7):461-5. doi: 10.1016/j.earlhumdev.2009.04.002. Epub 2009 Apr 28. Early Hum Dev. 2009. PMID: 19403245

9

MR spectroscopy and diffusion tensor imaging of the brain in Sjögren-Larsson syndrome.

Sijens PE, Westerlaan HE, de Groot JC, Boon M, Potze JH, van Spronsen FJ, Lunsing RJ, Oudkerk M. Sijens PE, et al. Among authors: van spronsen fj. Mol Genet Metab. 2009 Dec;98(4):367-71. doi: 10.1016/j.ymgme.2009.07.009. Epub 2009 Jul 14. Mol Genet Metab. 2009. PMID: 19656702

10

Timing of cerebral developmental disruption in molybdenum cofactor deficiency.

Veldman A, Hennermann JB, Schwarz G, van Spronsen F, Weis I, Wong FY, Schwahn BC. Veldman A, et al. J Child Neurol. 2011 Aug;26(8):1059-60; author reply 1061. doi: 10.1177/0883073811415851. J Child Neurol. 2011. PMID: 21775622 No abstract available.

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