Verhoeven N - Search Results

1

Metabolic profiles in children during fasting.

van Veen MR, van Hasselt PM, de Sain-van der Velden MG, Verhoeven N, Hofstede FC, de Koning TJ, Visser G. van Veen MR, et al. Among authors: verhoeven n. Pediatrics. 2011 Apr;127(4):e1021-7. doi: 10.1542/peds.2010-1706. Epub 2011 Mar 21. Pediatrics. 2011. PMID: 21422093

2

A common variant in ERBB4 regulates GABA concentrations in human cerebrospinal fluid.

Luykx JJ, Vinkers CH, Bakker SC, Visser WF, van Boxmeer L, Strengman E, van Eijk KR, Lens JA, Borgdorff P, Keijzers P, Kappen TH, van Dongen EP, Bruins P, Verhoeven NM, de Koning TJ, Kahn RS, Ophoff RA. Luykx JJ, et al. Neuropsychopharmacology. 2012 Aug;37(9):2088-92. doi: 10.1038/npp.2012.57. Epub 2012 May 2. Neuropsychopharmacology. 2012. PMID: 22549119 Free PMC article.

3

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C. Almeida LS, et al. Mol Genet Metab. 2004 Jul;82(3):214-9. doi: 10.1016/j.ymgme.2004.05.001. Mol Genet Metab. 2004. PMID: 15234334

4

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. 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

5

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM. Valayannopoulos V, et al. J Pediatr. 2006 Nov;149(5):713-7. doi: 10.1016/j.jpeds.2006.08.016. J Pediatr. 2006. PMID: 17095351

6

A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry.

Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM. Jansen EE, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jan 18;830(2):196-200. doi: 10.1016/j.jchromb.2005.10.053. Epub 2005 Nov 22. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16309980

7

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

8

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.

Huck JH, Roos B, Jakobs C, van der Knaap MS, Verhoeven NM. Huck JH, et al. Mol Genet Metab. 2004 Jul;82(3):231-7. doi: 10.1016/j.ymgme.2004.05.003. Mol Genet Metab. 2004. PMID: 15234337

9

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C. Verhoeven NM, et al. Clin Chim Acta. 2005 Nov;361(1-2):1-9. doi: 10.1016/j.cccn.2005.04.022. Clin Chim Acta. 2005. PMID: 16169544 Review.

10

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. Salomons GS, et al. Among authors: verhoeven nm. Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326334 Free PMC article.

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