R A Wevers

Summary

Affiliation: University Medical Centre Nijmegen
Country: The Netherlands

Publications

  1. ncbi Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
    R J Swaans
    Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, The Netherlands
    Ann Hum Genet 64:25-31. 2000
  2. ncbi A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
    R A Wevers
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    J Inherit Metab Dis 22:364-73. 1999
  3. ncbi 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism
    R A Wevers
    Institutes of Neurology and Paediatrics, University Hospital Nijmegen, 6525 GC Nijmegen, The Netherlands
    Clin Chem 45:539-48. 1999
  4. ncbi Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
    A Verrips
    Department of Neurology, University Hospital Nijmegen, The Netherlands
    Hum Genet 100:284-6. 1997
  5. ncbi Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study
    S H Moolenaar
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Clin Chem 45:459-64. 1999
  6. ncbi beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine
    S H Moolenaar
    Institute of Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands
    Magn Reson Med 46:1014-7. 2001
  7. ncbi A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
    L P van den Heuvel
    Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands
    Hum Genet 102:644-6. 1998
  8. ncbi Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine
    S H Moolenaar
    Institute of Neurology, University Medical Centre Nijmegen, The Netherlands
    J Inherit Metab Dis 24:843-50. 2001
  9. ncbi Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis
    A Verrips
    Departments of Neurology, Pathology and Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Utrecht, The Netherlands
    Brain 122:1589-95. 1999
  10. ncbi In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
    S H Moolenaar
    Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
    NMR Biomed 14:167-76. 2001

Collaborators

  • L P van den Heuvel
  • A Verrips
  • A Heerschap
  • J H Wokke
  • P Vreken
  • N M Verhoeven
  • F Barkhof
  • O Bandmann
  • Hans R Waterham
  • E Morava
  • Marcel M Verbeek
  • S H Moolenaar
  • U F Engelke
  • M C Ørngreen
  • B A Binzak
  • A Schiller
  • W O Renier
  • P E Jira
  • R J Swaans
  • J Poggi-Bach
  • J Vockley
  • S DiMauro
  • H J Schelhaas
  • H J Ter Laak
  • T D Jeppesen
  • O P van Diggelen
  • J Vissing
  • S T Andersen
  • H O Akman
  • B G van Engelen
  • A F van Heijst
  • N Blau
  • H H Jung
  • G C H Steenbergen
  • J G De Jong
  • U F H Engelke
  • I Redonnet-Vernhet
  • J G Vockley
  • W L Hwu
  • M Spraul
  • A van Gennip
  • W Oostheim
  • J H Tuerlings
  • N G Abeling
  • J De Jong
  • E Humpfer
  • M S van der Knaap
  • P J Pouwels
  • P Dvortsak
  • J A Smeitink
  • G F Hoffmann
  • R J Wanders
  • Y M Lee
  • C Jakobs
  • R C Sengers
  • R C Hennekam
  • H M Hoard
  • F S Janssen-Zijlstra
  • M Duran
  • H Mandel
  • T Voit
  • A B Van Kuilenburg
  • G C Steenbergen-Spanjers
  • P Rondot
  • J M Corstiaensen
  • J J Tolboom
  • J R Cruysberg
  • J H Veerkamp
  • A A Benders
  • G O Peelen
  • F J Gabreels
  • J K Ploos van Amstel
  • R P Jansen
  • R Salvayre
  • T Levade

Detail Information

Publications23

  1. ncbi Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
    R J Swaans
    Laboratory of Paediatrics and Neurology, University Hospital Nijmegen, The Netherlands
    Ann Hum Genet 64:25-31. 2000
    ..At the moment, all patients are in the fourth decade of life. For more than 30 years they have been able to live a normal life with low-dose L-DOPA medication...
  2. ncbi A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
    R A Wevers
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    J Inherit Metab Dis 22:364-73. 1999
    ..Three of our patients are homozygous for a mutation in exon 6 (698G > A) of the tyrosine hydroxylase gene and one patient was compound heterozygous for the same mutation and a novel truncating mutation in exon 3 (291delC)...
  3. ncbi 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism
    R A Wevers
    Institutes of Neurology and Paediatrics, University Hospital Nijmegen, 6525 GC Nijmegen, The Netherlands
    Clin Chem 45:539-48. 1999
    ..The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders...
  4. ncbi Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
    A Verrips
    Department of Neurology, University Hospital Nijmegen, The Netherlands
    Hum Genet 100:284-6. 1997
    ..This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule...
  5. ncbi Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study
    S H Moolenaar
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Clin Chem 45:459-64. 1999
    ..A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition...
  6. ncbi beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine
    S H Moolenaar
    Institute of Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands
    Magn Reson Med 46:1014-7. 2001
    ..With 1D (1)H-NMR spectroscopy, UP deficiency can be easily diagnosed. The (1)H-NMR spectrum can also be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway...
  7. ncbi A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
    L P van den Heuvel
    Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands
    Hum Genet 102:644-6. 1998
    ..This new mutation in the TH gene was confirmed by restriction enzyme analysis with the restriction enzyme HhaI. Thus, a high proportion of defective TH alleles may be R233H in The Netherlands...
  8. ncbi Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine
    S H Moolenaar
    Institute of Neurology, University Medical Centre Nijmegen, The Netherlands
    J Inherit Metab Dis 24:843-50. 2001
    ..The characteristic resonances in the urine from a prolidase-deficient patient, i.e. Ala-Pro, Val-Pro, Gly-Pro, and resonances of the (hydroxy)proline part of the imidodipeptides can be used to diagnose this disease...
  9. ncbi Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis
    A Verrips
    Departments of Neurology, Pathology and Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Utrecht, The Netherlands
    Brain 122:1589-95. 1999
    ..An array of genotypes was found in these patients. We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'...
  10. ncbi In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
    S H Moolenaar
    Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands
    NMR Biomed 14:167-76. 2001
    ..The paper shows that NMR spectroscopy in body fluids may help identifying unknown resonances observed in in vivo NMR spectra...
  11. ncbi High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies
    R A Wevers
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Clin Chem 40:1245-50. 1994
    ..As an example of the diagnostic power of the technique we show a spectrum of a plasma sample from a patient with 5-oxoprolinuria (pyroglutamic aciduria; McKusick 266130), an enzymatic defect in glutathione biosynthesis...
  12. ncbi Treatment and follow-up of children with cerebrotendinous xanthomatosis
    A F van Heijst
    Department of Paediatrics, University Hospital Nijmegen, The Netherlands
    Eur J Pediatr 157:313-6. 1998
    ..The early diagnosis of CTX and the start of treatment with chenodeoxycholic acid has prevented neurological deterioration for a period of 5 years...
  13. ncbi Intravenous immunoglobulin preparation increases myoplasmic calcium concentration by activating the dihydropyridine-ryanodine receptor complex
    B G van Engelen
    Department of Neurology, University Hospital Nijmegen, The Netherlands
    J Neurol Sci 156:35-40. 1998
    ..This phenomenon may be important in interpreting the (side) effects of IVIg in neuromuscular diseases...
  14. ncbi HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients
    G O Peelen
    University Hospital Nijmegen, Department of Neurology, The Netherlands
    Clin Chem 40:914-21. 1994
    ....
  15. ncbi Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism
    S H Moolenaar
    Laboratory for Paediatrics and Neurology, Institute of Neurology, University Medical Centre Nijmegen, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands
    Ann Clin Biochem 40:16-24. 2003
    ..Relevant parts of the spectra from the urine samples of patients with these diseases are shown. NMR spectroscopy may develop to become a key tool in a metabonomics approach in clinical biochemistry...
  16. ncbi Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
    A Schiller
    Department of Neurology, , , Switzerland
    Neurology 63:1524-6. 2004
    ..Although the l-dopa therapy was delayed up to 20 years after disease onset, there were no cognitive or neurologic sequelae of the long-term catecholamine deficit...
  17. ncbi Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
    E Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:28-35. 2008
    ..The biochemical analysis using transferrin isoelectric focusing gives false negative results in some of the youngest patients. Analysis of the apolipoprotein C-III isoelectric focusing, however, is diagnostic in all cases...
  18. ncbi Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes
    M M Verbeek
    Department of Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Mol Genet Metab 90:363-9. 2007
    ..Confirmation of the diagnosis AADC deficiency is then required by enzyme activity measurement or genetic analysis...
  19. ncbi Dopa-responsive dystonia: a clinical and molecular genetic study
    O Bandmann
    Institute of Neurology, London, UK
    Ann Neurol 44:649-56. 1998
    ..None of our DRD patients without a mutation in GCH-1 had the 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34...
  20. ncbi Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene
    I Redonnet-Vernhet
    CJF INSERM 9206, Laboratoire de Biochimie Medicale, Maladies Metaboliques, Institut Louis Bugnard, CHU Rangueil, Toulouse, France
    J Med Genet 33:682-8. 1996
    ..This is the first documented case of female twins discordant for Fabry disease...
  21. ncbi Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome
    P E Jira
    Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
    Ann Hum Genet 65:229-36. 2001
    ..Seven patients with a mild to moderate SLOS-phenotype disclosed compound heterozygosity of the IVS8--1 G > C mutation in combination with different novel and known missense mutations...
  22. ncbi Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency
    B A Binzak
    Department of Biochemistry and Molecular Biology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Am J Hum Genet 68:839-47. 2001
    ..Expression analysis of the mutant cDNA indicates that this mutation inactivates the enzyme. We therefore confirm that the patient described here represents the first reported case of a new inborn error of metabolism, DMGDH deficiency...
  23. ncbi Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    M C Ørngreen
    Neuromuscular Research Unit 7611, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Neurology 70:1876-82. 2008
    ....