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439 results
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Cerebrospinal fluid investigations for neurometabolic disorders.
Hoffmann GF, Surtees RA, Wevers RA. Hoffmann GF, et al. Among authors: wevers ra. Neuropediatrics. 1998 Apr;29(2):59-71. doi: 10.1055/s-2007-973538. Neuropediatrics. 1998. PMID: 9638660 Review.
Follow-up of a child with hypoacetylaspartia.
Boltshauser E, Schmitt B, Wevers RA, Engelke U, Burlina AB, Burlina AP. Boltshauser E, et al. Among authors: wevers ra. Neuropediatrics. 2004 Aug;35(4):255-8. doi: 10.1055/s-2004-821036. Neuropediatrics. 2004. PMID: 15328569
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
Bräutigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF. Bräutigam C, et al. Among authors: wevers ra. J Inherit Metab Dis. 2000 Jun;23(4):321-4. doi: 10.1023/a:1005698223186. J Inherit Metab Dis. 2000. PMID: 10896284 No abstract available.
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA. Fiumara A, et al. Among authors: wevers ra. Neuropediatrics. 2002 Aug;33(4):203-8. doi: 10.1055/s-2002-34497. Neuropediatrics. 2002. PMID: 12368991
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: wevers ra. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sequeira S, Rodrigues M, Jacinto S, Wevers RA, Wortmann SB. Sequeira S, et al. Among authors: wevers ra. Neuropediatrics. 2017 Oct;48(5):382-384. doi: 10.1055/s-0037-1602833. Epub 2017 May 15. Neuropediatrics. 2017. PMID: 28505671 No abstract available.
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Gramer G, Wolf NI, Vater D, Bast T, Santer R, Kamsteeg EJ, Wevers RA, Ebinger F. Gramer G, et al. Among authors: wevers ra. Neuropediatrics. 2012 Jun;43(3):168-71. doi: 10.1055/s-0032-1315433. Epub 2012 May 23. Neuropediatrics. 2012. PMID: 22622956
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.
Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA. Leen WG, et al. Among authors: wevers ra. JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. JAMA Neurol. 2013. PMID: 23999624 Review.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: wevers ra. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805
Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations.
van Asselt DZ, Karlietis MH, Poels PJ, de Jong JG, Wevers RA, Hoefnagels WH. van Asselt DZ, et al. Among authors: wevers ra. Acta Neurol Scand. 1998 Jun;97(6):413-6. doi: 10.1111/j.1600-0404.1998.tb05976.x. Acta Neurol Scand. 1998. PMID: 9669477
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