Wevers R - Search Results

1

Tyrosine hydroxylase deficiency with severe clinical course.

Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. Zafeiriou DI, et al. Among authors: wevers r. 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

2

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Among authors: wevers ra. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

3

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: wevers ra. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

4

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA. Hoffmann GF, et al. Ann Neurol. 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. Ann Neurol. 2003. PMID: 12891655

5

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.

Engelke UF, Tangerman A, Willemsen MA, Moskau D, Loss S, Mudd SH, Wevers RA. Engelke UF, et al. NMR Biomed. 2005 Aug;18(5):331-6. doi: 10.1002/nbm.966. NMR Biomed. 2005. PMID: 15996001 Clinical Trial.

6

Cerebral folate deficiency syndrome.

Willemsen MA, Wevers RA, Verbeek MM. Willemsen MA, et al. N Engl J Med. 2005 Aug 18;353(7):740; author reply 740. doi: 10.1056/NEJM200508183530721. N Engl J Med. 2005. PMID: 16107634 Free article. No abstract available.

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

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Oostendorp M, Engelke UF, Willemsen MA, Wevers RA. Oostendorp M, et al. Clin Chem. 2006 Jul;52(7):1395-405. doi: 10.1373/clinchem.2006.069112. Epub 2006 May 18. Clin Chem. 2006. PMID: 16709621 Free article.

9

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA. Verbeek MM, et al. Among authors: wevers ra. Mol Genet Metab. 2007 Apr;90(4):363-9. doi: 10.1016/j.ymgme.2006.12.001. Epub 2007 Jan 19. Mol Genet Metab. 2007. PMID: 17240182

10

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

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