van Spronsen FJ - Search Results

1

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

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

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.

4

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

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

Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?

Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ. Koelink CJ, et al. Among authors: van den heuvel eibrink mm, van hasselt p, van der ploeg a, van spronsen fj. Mol Genet Metab. 2006 Dec;89(4):310-5. doi: 10.1016/j.ymgme.2006.07.009. Epub 2006 Sep 27. Mol Genet Metab. 2006. PMID: 17008115

8

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.

van Dael CM, Pierik LJ, Reijngoud DJ, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ. van Dael CM, et al. Among authors: van diggelen op, van spronsen fj. Mol Genet Metab. 2007 Feb;90(2):221-3. doi: 10.1016/j.ymgme.2006.10.011. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17129743

9

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

10

Muscular glycogen storage diseases without increased glycogen content on histopathological examination.

Hoeksma M, den Dunnen WF, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ. Hoeksma M, et al. Among authors: van diggelen op, van spronsen fj. Mol Genet Metab. 2007 Aug;91(4):370-3. doi: 10.1016/j.ymgme.2007.04.012. Epub 2007 May 30. Mol Genet Metab. 2007. PMID: 17540597

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