Maaike De Vries

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
    Maaike C de Vries
    Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Pediatr 166:229-34. 2007
  2. doi request reprint Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note
    M C de Vries
    Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 31:S299-302. 2008
  3. pmc Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
    Catharina M L Touw
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 7:30. 2012
  4. ncbi request reprint Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Am J Med Genet A 140:863-8. 2006
  5. ncbi request reprint Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
    Gretha van de Glind
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Paediatr Neurol 11:243-6. 2007
  6. ncbi request reprint Dietary intervention and oxidative phosphorylation capacity
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 29:589. 2006
  7. ncbi request reprint Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Biol Neonate 90:207-9. 2006
  8. pmc Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
    Samira Achouitar
    Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 34:923-7. 2011

Collaborators

  • E Morava
  • Katrin Ounap
  • Regina Ensenauer
  • M Lammens
  • Wim Ruitenbeek
  • Willem Pieter de Boode
  • Catharina M L Touw
  • Samira Achouitar
  • Gretha van de Glind
  • Annet M Bosch
  • Bert Elvers
  • Gepke Visser
  • Ronald J A Wanders
  • Margot F Mulder
  • Johannis B C De Klerk
  • Hans R Waterham
  • Dirk Jan Reijngoud
  • Klary E Niezen-Koning
  • Terry G J Derks
  • G Peter A Smit
  • M Estela Rubio-Gozalbo
  • Helene Ogier de Baulny
  • Diego Martinelli
  • Saskia B Wortmann
  • Jolanta Sykut-Cegielska
  • Ron A Wevers
  • Stephanie Grunewald
  • Frits Wijburg
  • Dorus Kouwenberg
  • Miranda Theodore
  • Joanna Elson
  • Miski Mohamed
  • Thatjana Gardeitchik
  • Leo Nijtmans
  • Jaak Jaeken
  • Robert McFarland
  • Jan Smeitink
  • Richard Rodenburg
  • Frans Hol

Detail Information

Publications8

  1. ncbi request reprint Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
    Maaike C de Vries
    Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Pediatr 166:229-34. 2007
    ..Conclusion We suggest performing POLG1 mutation analysis in children with combined oxidative phosphorylation deficiencies in muscle, even if the clinical picture is not Alpers syndrome...
  2. doi request reprint Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note
    M C de Vries
    Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 31:S299-302. 2008
    ....
  3. pmc Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
    Catharina M L Touw
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 7:30. 2012
    ..It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes...
  4. ncbi request reprint Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Am J Med Genet A 140:863-8. 2006
    ..We confirmed an impaired assembly/stability of complex V in our patients. This is the first report of decreased activity and impaired assembly/stability of complex V in patients with T8993C mutations measured in muscle tissue...
  5. ncbi request reprint Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
    Gretha van de Glind
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Paediatr Neurol 11:243-6. 2007
    ..We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease...
  6. ncbi request reprint Dietary intervention and oxidative phosphorylation capacity
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 29:589. 2006
    ..On the other hand, our data suggest that optimizing the nutritional and energy intake might also improve the utilization of the residual mitochondrial energy-generating capacity in patients with primary oxidative phosphorylation defects...
  7. ncbi request reprint Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Biol Neonate 90:207-9. 2006
    ..Chronic lactic acidemia results in increased serum alanine levels. Serum alanine levels in newborns with transient lactic acidemia have not yet been studied...
  8. pmc Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
    Samira Achouitar
    Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 34:923-7. 2011
    ..The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions...