van Spronsen FJ - Search Results

1

1H MR spectroscopy of the brain in Cr transporter defect.

Sijens PE, Verbruggen KT, Oudkerk M, van Spronsen FJ, Soorani-Lunsing RJ. Sijens PE, et al. Among authors: van spronsen fj. Mol Genet Metab. 2005 Nov;86(3):421-2. doi: 10.1016/j.ymgme.2005.08.004. Mol Genet Metab. 2005. PMID: 16169765 No abstract available.

2

1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU).

Sijens PE, Oudkerk M, Reijngoud DJ, Leenders KL, de Valk HW, van Spronsen FJ. Sijens PE, et al. Among authors: van spronsen fj. Eur Radiol. 2004 Oct;14(10):1895-900. doi: 10.1007/s00330-004-2388-z. Epub 2004 Aug 3. Eur Radiol. 2004. PMID: 15378255

3

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.

Sijens PE, Reijngoud DJ, Soorani-Lunsing RJ, Oudkerk M, van Spronsen FJ. Sijens PE, et al. Among authors: van spronsen fj. Mol Genet Metab. 2006 May;88(1):100-2. doi: 10.1016/j.ymgme.2005.10.013. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343968

4

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Soorani-Lunsing RJ, van Spronsen FJ, Stolte-Dijkstra I, Wanders RJ, Ferdinandusse S, Waterham HR, Poll-The BT, Rake JP. Soorani-Lunsing RJ, et al. Among authors: van spronsen fj. J Inherit Metab Dis. 2005;28(6):1172-4. doi: 10.1007/s10545-005-0149-z. J Inherit Metab Dis. 2005. PMID: 16435222

5

Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I.

Sijens PE, Smit GP, Meiners LC, Oudkerk M, van Spronsen FJ. Sijens PE, et al. Among authors: van spronsen fj. Mol Genet Metab. 2006 Jul;88(3):285-9. doi: 10.1016/j.ymgme.2006.01.001. Epub 2006 Feb 20. Mol Genet Metab. 2006. PMID: 16488172

6

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. van Spronsen FJ, et al. Mol Genet Metab. 2006 Nov;89(3):274-6. doi: 10.1016/j.ymgme.2006.02.005. Epub 2006 Apr 3. Mol Genet Metab. 2006. PMID: 16580861

7

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

8

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

9

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

10

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

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