Wevers RA - Search Results

1

Long-term outcome in pyridoxine-dependent epilepsy.

Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, Struys E, Van Der Hoeven JH, Sival DA, Willemsen MA. Bok LA, et al. Among authors: wevers ra. Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13. Dev Med Child Neurol. 2012. PMID: 22804844 Free article.

2

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.

van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA. van der Knaap MS, et al. Among authors: wevers ra. J Inherit Metab Dis. 1996;19(6):787-91. doi: 10.1007/BF01799174. J Inherit Metab Dis. 1996. PMID: 8982953

3

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Among authors: wevers ra. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548

4

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.

Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. Moolenaar SH, et al. Among authors: wevers ra. NMR Biomed. 2001 May;14(3):167-76. doi: 10.1002/nbm.690. NMR Biomed. 2001. PMID: 11357181

5

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.

Willemsen MA, Mavinkurve-Groothuis AM, Wevers RA, Rotteveel JJ, Jakobs C. Willemsen MA, et al. Among authors: wevers ra. Ann Neurol. 2005 Oct;58(4):653. doi: 10.1002/ana.20610. Ann Neurol. 2005. PMID: 16178031 No abstract available.

6

Folinic acid-responsive seizures initially responsive to pyridoxine.

Nicolai J, van Kranen-Mastenbroek VH, Wevers RA, Hurkx WA, Vles JS. Nicolai J, et al. Among authors: wevers ra. Pediatr Neurol. 2006 Feb;34(2):164-7. doi: 10.1016/j.pediatrneurol.2005.08.019. Pediatr Neurol. 2006. PMID: 16458834

7

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR. Morava E, et al. Among authors: wevers ra. Eur J Ophthalmol. 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. Eur J Ophthalmol. 2006. PMID: 16496270

8

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA. Wamelink MM, et al. Among authors: wevers ra. Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. Hum Mutat. 2008. PMID: 18186520

9

Tyrosine hydroxylase deficiency with severe clinical course.

Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. Zafeiriou DI, et al. Mol Genet Metab. 2009 May;97(1):18-20. doi: 10.1016/j.ymgme.2009.02.001. Epub 2009 Feb 10. Mol Genet Metab. 2009. PMID: 19282209

10

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type.

Morava E, Wevers RA, Willemsen MA, Lefeber D. Morava E, et al. Among authors: wevers ra. Neurology. 2009 Oct 6;73(14):1164; author reply 1164-5. doi: 10.1212/WNL.0b013e3181b26daf. Neurology. 2009. PMID: 19805737 No abstract available.

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