E Morava

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 Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
    Saskia B Wortmann
    Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands
    Brain 132:136-46. 2009
  3. pmc Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini
    M Binkhorst
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 35:399-405. 2012
  4. pmc Aerobic exercise in children with oxidative phosphorylation defects
    Luuk Schreuder
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics and Neurology
    Neurol Int 2:e4. 2010
  5. doi request reprint Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations
    Eva Morava
    Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatrics 130:e1034-9. 2012
  6. 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
  7. pmc The 3-methylglutaconic acidurias: what's new?
    Saskia B Wortmann
    833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease IGMD, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Inherit Metab Dis 35:13-22. 2012
  8. pmc Metabolic cutis laxa syndromes
    Miski Mohamed
    Institute for Genetic and Metabolic Disease, Radboud University Medical Centre Nijmegen, P O Box 9101, 6500, HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 34:907-16. 2011
  9. ncbi request reprint Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
    E Morava
    Radboud University Nijmegen Medical Centre, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Br J Ophthalmol 93:350-4. 2009
  10. ncbi request reprint Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
    E Morava
    Laboratory of Paediatrics and Neurology, Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 31:450-6. 2008

Detail Information

Publications98

  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 Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
    Saskia B Wortmann
    Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands
    Brain 132:136-46. 2009
    ..Depending on the clinical and biochemical phenotype we suggest POLG1, SUCLA2, TMEM70 and RYR1 sequence analysis and mtDNA-depletion studies in children with 3-methylglutaconic aciduria type IV...
  3. pmc Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini
    M Binkhorst
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 35:399-405. 2012
    ..This model highlights the pivotal role of disrupted isoprenoid metabolism in the origination of FAS...
  4. pmc Aerobic exercise in children with oxidative phosphorylation defects
    Luuk Schreuder
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics and Neurology
    Neurol Int 2:e4. 2010
    ..With our case studies, we would like to draw attention to the importance and pitfalls of movement therapy in children with mitochondrial disease...
  5. doi request reprint Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations
    Eva Morava
    Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatrics 130:e1034-9. 2012
    ..We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events...
  6. 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...
  7. pmc The 3-methylglutaconic acidurias: what's new?
    Saskia B Wortmann
    833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease IGMD, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Inherit Metab Dis 35:13-22. 2012
    ..A diagnostic approach to the patient with 3-MGA-uria is presented, and we search for the connection between urinary 3-MGA excretion and mitochondrial dysfunction...
  8. pmc Metabolic cutis laxa syndromes
    Miski Mohamed
    Institute for Genetic and Metabolic Disease, Radboud University Medical Centre Nijmegen, P O Box 9101, 6500, HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 34:907-16. 2011
    ..In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes...
  9. ncbi request reprint Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
    E Morava
    Radboud University Nijmegen Medical Centre, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Br J Ophthalmol 93:350-4. 2009
    ..Little is known, however, about the occurrence of ophthalmological abnormalities in other subtypes of CDG syndrome...
  10. ncbi request reprint Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
    E Morava
    Laboratory of Paediatrics and Neurology, Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 31:450-6. 2008
    ..Clinical grouping also helps to determine the prognosis and provide better counselling for the families...
  11. ncbi request reprint 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...
  12. ncbi request reprint Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Am J Med Genet A 140:752-6. 2006
    ..Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome...
  13. ncbi request reprint High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome
    E Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Ophthalmol 16:190-4. 2006
    ..Alpha-dystroglycan is an O-mannosylated glycoprotein with additional mucin type O-glycans...
  14. 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...
  15. ncbi request reprint A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 15:638-45. 2007
    ..The presence of the characteristic phenotype might warrant direct DNA analysis...
  16. 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...
  17. ncbi request reprint Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 16:131-4. 2007
  18. 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...
  19. ncbi request reprint Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
    Eva Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 140:2248-50. 2006
  20. ncbi request reprint Mitochondrial disease criteria: diagnostic applications in children
    E Morava
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Neurology 67:1823-6. 2006
    ..Based on a previous prospective clinical and biochemical study, a consensus mitochondrial disease scoring system was established to facilitate the diagnosis in patients with a suspected mitochondrial disorder...
  21. ncbi request reprint Mitochondrial dysfunction in a patient with Joubert syndrome
    E Morava
    Nijmegen Center for Mitochondrial Disorders, Radboud University, Nijmegen Medical Center, Nijmegen, The Netherlands
    Neuropediatrics 36:214-7. 2005
    ..We suggest that the described mitochondrial dysfunction in our patient is secondary to an underlying mutation leading to Joubert syndrome...
  22. doi request reprint Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
    Eva Morava
    Radboud University Nijmegen, Department of Pediatrics, Nijmegen, The Netherlands
    J Clin Endocrinol Metab 96:E189-98. 2011
    ..Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space...
  23. doi request reprint A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
    Eva Morava
    Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:3210-20. 2010
    ....
  24. doi request reprint Depressive behaviour in children diagnosed with a mitochondrial disorder
    E Morava
    Nijmegen Centre for Mitochondrial Disorders and Department of Paediatrics, Radboud University Nijmegen Medical Centre, IGMD, Nijmegen, The Netherlands
    Mitochondrion 10:528-33. 2010
    ..The occurrence of depressive behaviour showed no correlation with the degree of mitochondrial dysfunction. These findings support the hypothesis that mood disorders could be associated to abnormal cerebral energy metabolism...
  25. ncbi request reprint Tall stature and progressive overweight in mitochondrial encephalopathy
    E Morava
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, UMC Nijmegen, The Netherlands
    J Inherit Metab Dis 26:720-2. 2003
    ..Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation...
  26. ncbi request reprint Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
    E Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Inherit Metab Dis 28:703-6. 2005
    ..We propose screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis...
  27. ncbi request reprint Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
    Eva Morava
    Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur J Pediatr 163:467-71. 2004
    ....
  28. doi request reprint Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
    Eva Morava
    Departments of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, The Netherlands
    Mitochondrion 9:438-42. 2009
    ..Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients...
  29. ncbi request reprint Screening for CDG type Ia in Joubert syndrome
    Eva Morava
    Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Med Sci Monit 10:CR469-72. 2004
    ..It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation...
  30. pmc Autosomal recessive cutis laxa syndrome revisited
    Eva Morava
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 17:1099-110. 2009
    ..Based on the recently unraveled novel genetic entity we also review the genetic aspects in cutis laxa syndromes including genotype-phenotype correlations and suggest a practical diagnostic approach...
  31. ncbi request reprint Defective protein glycosylation in patients with cutis laxa syndrome
    Eva Morava
    Department of Pediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 13:414-21. 2005
    ..Our results suggest that a combined defect of glycosylation might be a causative factor in congenital cutis laxa. This is the first report where abnormal N- and O-linked glycosylation is implicated in the etiology of cutis laxa syndrome...
  32. 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
    ....
  33. ncbi request reprint Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
    S Wortmann
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, The Netherlands
    Mol Genet Metab 88:47-52. 2006
    ..Our patients were further biochemically characterized by a mitochondrial dysfunction and persistent urinary excretion of 3-methylglutaconic acid...
  34. doi request reprint Major depression in adolescent children consecutively diagnosed with mitochondrial disorder
    S Koene
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, The Netherlands
    J Affect Disord 114:327-32. 2009
    ..Exploring the genetic etiology in children with mitochondrial dysfunction and depression is essential both for safe medication and adequate counselling...
  35. ncbi request reprint A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
    Suzan Wopereis
    Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands
    Biochim Biophys Acta 1741:156-64. 2005
    ..Improper glycosylation of ECM proteins of skin may form the pathophysiological basis for the cutis laxa phenotype...
  36. ncbi request reprint Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited
    S B Wortmann
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands
    Genet Couns 18:119-23. 2007
    ..The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome...
  37. ncbi request reprint Early cardiac involvement in children carrying the A3243G mtDNA mutation
    S B Wortmann
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Acta Paediatr 96:450-1. 2007
    ..We advise performing regular repeated ECGs and echocardiography in all children carrying a A3243G mtDNA mutation independently from the presence of cardiac symptoms...
  38. ncbi request reprint Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system
    S Pillen
    Department of Clinical Neurophysiology, Institute of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 37:142-7. 2006
    ..The aim of this prospective study was to investigate the diagnostic value of quantitative skeletal muscle ultrasonography in children suspected of having a mitochondrial disorder...
  39. ncbi request reprint Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
    S Vermeer
    Dept of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Neurol 254:1356-8. 2007
    ....
  40. doi request reprint Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
    Mailys Guillard
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Biochim Biophys Acta 1792:903-14. 2009
    ..A clinical overview of cutis laxa syndromes is presented with a focus on ARCL II. Finally, the relationship between ATP6V0A2 mutations, the glycosylation defect and the ARCLII phenotype is discussed...
  41. doi request reprint Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation
    H G X M Thomeer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Int J Pediatr Otorhinolaryngol 77:1152-7. 2013
    ..To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy...
  42. pmc Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction
    L T W Schreuder
    Departments of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Inherit Metab Dis 33:S205-9. 2010
    ..In general, in this pilot study in a complex case of metabolic myopathy our patient has shown promising results following albuterol treatment and aerobic exercise therapy. ..
  43. doi request reprint Decreased bone density and treatment in patients with autosomal recessive cutis laxa
    C Noordam
    Departments of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Acta Paediatr 98:490-4. 2009
    ..Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies...
  44. doi request reprint Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype
    M Horvers
    Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, 6500HB Nijmegen, The Netherlands
    Eur J Paediatr Neurol 17:199-203. 2013
    ..Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene...
  45. doi request reprint Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
    M Mohamed
    Institute for Genetic and Metabolic Diseases at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Biochim Biophys Acta 1812:691-8. 2011
    ....
  46. doi request reprint Mitochondrial energy production correlates with the age-related BMI
    Saskia B Wortmann
    Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    Pediatr Res 65:103-8. 2009
    ..Dietary intervention remains although challenging because of frequent gastrointestinal problems and eating disorders...
  47. ncbi request reprint Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
    Sandra G Heil
    Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 30:811. 2007
    ....
  48. ncbi request reprint Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology
    Antoon J M Janssen
    Department of Pediatrics and Laboratory of Pediatrics and Neurology, the Nijmegen Centre for Mitochondrial Disorders NCMD, Nijmegen, The Netherlands
    Clin Chem 52:860-71. 2006
    ..Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function. We describe our diagnostic procedure and results for 29 patients with mitochondrial disorders...
  49. ncbi request reprint Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
    Suzan Wopereis
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands
    Glycobiology 15:1312-9. 2005
    ..Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects...
  50. doi request reprint 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
    S B Wortmann
    Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases 830, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Neurology 75:1079-83. 2010
    ..3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown...
  51. doi request reprint Substrate deprivation therapy in juvenile Sandhoff disease
    S B Wortmann
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Huispost 833, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 32:S307-11. 2009
    ..Under treatment with miglustat the clinical course in our patient with Sandhoff disease did not further deteriorate...
  52. ncbi request reprint Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis
    Suzan Wopereis
    University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology, NL 6525 GC Nijmegen, The Netherlands
    Clin Chem 49:1839-45. 2003
    ..Defects in the biosynthesis of N-glycans may be found by isoelectric focusing (IEF) of plasma transferrin. No test is available to demonstrate O-glycan biosynthesis defects...
  53. ncbi request reprint Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects
    Suzan Wopereis
    Department of Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Chem 53:180-7. 2007
    ..Apolipoprotein C-III (apoC-III) isoelectric focusing (IEF) can be used to detect abnormalities in the biosynthesis of core 1 mucin-type O-glycans...
  54. pmc Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
    Dirk J Lefeber
    Laboratory of Pediatrics and Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 85:76-86. 2009
    ..This mild Dol-P-Man biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, thereby bridging the congenital disorders of glycosylation with the dystroglycanopathies...
  55. pmc Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects
    Paulien Smits
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 18:324-9. 2010
    ..Our results show that these tRNA(Trp) and tRNA(Arg) mutations cause the combined OXPHOS deficiencies in the patients, adding to the still expanding group of pathogenic mitochondrial tRNA mutations...
  56. pmc Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
    Udo F H Engelke
    Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands
    Biochim Biophys Acta 1802:1028-35. 2010
    ..Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO deficiency...
  57. doi request reprint Thrombotic complications in patients with PMM2-CDG
    M Linssen
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, The Netherlands
    Mol Genet Metab 109:107-11. 2013
    ..Easily preventable risk factors like immobility should be treated with regular physiotherapy. We suggest a yearly follow-up for Antithrombin-III and Protein C levels and parent education for early thrombotic signs in CDG...
  58. ncbi request reprint Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review
    Suzan Wopereis
    Laboratory of Pediatrics and Neurology and Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Chem 52:574-600. 2006
    ..Finally, we introduce existing methods that might be useful for unraveling O-glycosylation defects in the future...
  59. doi request reprint Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
    Gerben Truin
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Mol Genet Metab 94:481-4. 2008
    ..Future therapeutic efforts should be directed to inhibit the abnormal immune response and excessive protein transport in this life-threatening complication of CDG syndrome...
  60. pmc Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
    L de Boer
    Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    JIMD Rep 10:39-40. 2013
    ....
  61. ncbi request reprint Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies
    E Morava
    University Medical Center Nijmegen, Department of Pediatrics, Nijmegen, Netherlands
    Genet Couns 15:449-53. 2004
    ....
  62. doi request reprint Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay
    Saskia Koene
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 17:195-8. 2008
  63. ncbi request reprint Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications
    Dominique Bonthuis
    Department of Anesthesiology, Pain and Palliative Care, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Paediatr Anaesth 19:212-7. 2009
    ..We also describe symptomatically related syndromes and their theoretical risks for anesthesia...
  64. doi request reprint Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system
    Antoon J M Janssen
    Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Ann Neurol 63:473-81. 2008
    ....
  65. 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...
  66. ncbi request reprint Females with PDHA1 gene mutations: a diagnostic challenge
    Marjolein Willemsen
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 Nijmegen, HB, The Netherlands
    Mitochondrion 6:155-9. 2006
    ....
  67. ncbi request reprint N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism
    Udo F H Engelke
    University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology, NL 6500 HB Nijmegen, The Netherlands
    Clin Chem 50:58-66. 2004
    ..In the present study, we examined the potential of proton nuclear magnetic resonance ((1)H-NMR) spectroscopy as a tool to identify and quantify N-acetylated metabolites in urine of patients with various inborn errors of metabolism...
  68. doi request reprint Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry
    Mailys Guillard
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Carbohydr Res 344:1550-7. 2009
    ..Although sample processing still needs optimization, this method provides a reproducible and high-throughput approach for measurement of N-glycans using a MALDI-linear ion trap instrument...
  69. ncbi request reprint NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
    Udo F H Engelke
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    NMR Biomed 19:271-8. 2006
    ..Our data demonstrate that (1)H-NMR spectroscopy of urine can easily discriminate between the known inborn errors of leucine metabolism and provide the correct diagnosis...
  70. doi request reprint Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids
    Udo F H Engelke
    Laboratory of Pediatrics and Neurology, Nijmegen Medical Center, Radboud University, Nijmegen, The Netherlands
    NMR Biomed 22:538-44. 2009
    ..Due to overlap by other resonances, the doublet of GAA could not be observed. Our data demonstrate that (1)H NMR spectroscopy of urine and CSF can be used to diagnose patients with GAMT deficiency...
  71. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  72. ncbi request reprint Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Am J Med Genet A 116:272-7. 2003
    ..Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome"...
  73. ncbi request reprint SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Brain 130:862-74. 2007
    ..We confirm and extend the findings on this inborn error of metabolism in the TCA cycle that must be carefully investigated by accurate metabolite analyses...
  74. ncbi request reprint Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:161-5. 2003
    ..Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome...
  75. ncbi request reprint Scoliosis in velo-cardio-facial syndrome
    Eva Morava
    Children s Hospital, New Orleans, Louisiana 70118, USA
    J Pediatr Orthop 22:780-3. 2002
    ..2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay...
  76. ncbi request reprint Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
    Fern Tsien
    Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA
    Clin Dysmorphol 14:177-81. 2005
    ..The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility...
  77. ncbi request reprint Provisional new syndrome of MR/MCA with evolving phenotype
    Yves Lacassie
    Department of Pediatrics, Louisiana State University Health Sciences Center and Children s Hospital, New Orleans, Louisiana 70112 2822, USA
    Am J Med Genet 113:213-7. 2002
    ..Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome...
  78. ncbi request reprint Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)
    Márta Czakó
    MTA PTE Clinical Genetics Research Group, Pecs, Hungary
    Am J Med Genet 108:226-8. 2002
    ....
  79. ncbi request reprint Null mutations and lethal congenital form of glycogen storage disease type IV
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G Gaslini 5, I 16147 Genova, Italy
    Biochem Biophys Res Commun 361:445-50. 2007
    ..W548X). These data underscore that in GSD-IV a severe phenotype correlates with null mutations, and indicate that RNA analysis is necessary to characterize functional consequences of intronic mutations...
  80. ncbi request reprint Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
    Suzan Wopereis
    Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children s Hospital at Westmead, NSW Sydney, Australia
    Biochim Biophys Acta 1762:598-607. 2006
    ..N-glycosylation of serum proteins seems largely unaffected. Sialuria is the first metabolic disorder presenting with hypersialylated O-glycans...
  81. doi request reprint Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
    Nicole Monnier
    Laboratoire de Biochimie et Génétique Moléculaire and Centre de Référence des Maladies Neuro Musculaires, CHU Grenoble, Grenoble, France
    Hum Mutat 29:670-8. 2008
    ..Our study also indicated that presence of a second mutation must be investigated in sporadic cases or in dominant cases presenting with a familial clinical variability...
  82. ncbi request reprint Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
    Uwe Kornak
    Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 40:32-4. 2008
    ..These results indicate that the a2 subunit of the proton pump has an important role in Golgi function...
  83. ncbi request reprint CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans
    Ziad Albahri
    Department of Pediatrics, Faculty of Medicine, Charles University, Hradec Kralove, Czech Republic
    Eur J Pediatr 165:203-4. 2006
  84. ncbi request reprint Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
    Márta Czakó
    MTA PTE Clinical Genetics Research Group, Pecs, Hungary
    Am J Med Genet A 131:310-2. 2004
    ..It is proposed that the major clinical findings of this patient are consistent with the phenotype characteristic of the Opitz "C" trigonocephaly syndrome...
  85. ncbi request reprint [Metabolic bone disease in premature infants and genetic polymorphisms]
    Simone Funke
    Pecsi Tudomanyegyetem, Altalános Orvostudományi Kar Szülészeti és Nogyógyászati Klinika Pécs Edesanyák útja 17 7624
    Orv Hetil 148:1957-65. 2007
    ..In adults, osteoporosis has been shown to be associated with polymorphisms of vitamin D receptor, estrogen receptor, and collagen Ialpha1 receptor genes...
  86. ncbi request reprint Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    Lorne Lonie
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:1160. 2006
    ..This technique was found to be sensitive with a detection rate of 100% regarding heterozygote detection for EXT mutation scanning. Furthermore, this technique has a very high throughput and is very cost-effective...
  87. ncbi request reprint Influence of genetic polymorphisms on bone disease of preterm infants
    Simone Funke
    Department of Obstetrics and Gynecology, Medical School, University of Pecs, 7624 Pecs, Hungary
    Pediatr Res 60:607-12. 2006
    ..002), lower gestational age (p = 0.015), homozygous allelic variants of high number of (TA)(n) repeats (p = 0.006), and interaction between VDR and COLIA1 genotype (p = 0.009)...
  88. ncbi request reprint Transient progeroid phenotype and lipodystrophy in mosaic polyploidy
    Judit Karteszi
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 15:29-31. 2006
    ..A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy...
  89. ncbi request reprint Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome
    Mrugeshkumar K Shah
    Department of Human Genetics and Pediatrics, Division of Neonatology, Tulane University School of Medicine, New Orleans, LA, USA
    J Perinatol 22:89-90. 2002
    ..The combination of congenital heart disease and hypocalcemia in our patient raises the possibility of a hydantoin effect on neural crest migration...
  90. ncbi request reprint [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]
    Judit Karteszi
    Pecsi Tudomanyegyetem, Orvos és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pecs
    Orv Hetil 145:909-11. 2004
    ..Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999...
  91. ncbi request reprint Presenile cataract: consider cholestanol
    Alexandra Teszas
    Department of Medical Genetics and Child Develoment, University of Pecs, Hungary
    Arch Ophthalmol 124:1490-2. 2006
  92. ncbi request reprint Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients
    Judit Karteszi
    Am J Med Genet A 131:106. 2004
  93. ncbi request reprint [Maternal toxoplasma infection and mosaic trisomy 8 syndrome]
    Eva Morava
    Pecsi Tudomanyegyetem Altalanos Orvostudomanyi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet
    Orv Hetil 143:563-5. 2002
    ....
  94. pmc Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
    Richard J F L Lemmers
    Leiden University Medical Center, Center for Human and Clinical Genetics, Department of Human Genetics, Leiden, The Netherlands
    Am J Hum Genet 75:1124-30. 2004
    ..Thus, in addition to a contraction of D4Z4, additional cis-acting elements on 4qA may be required for the development of FSHD. Alternatively, 4qB subtelomeres may contain elements that prevent FSHD pathogenesis...
  95. ncbi request reprint The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    Judith Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Nat Genet 39:28-30. 2007
    ..NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58)...
  96. ncbi request reprint Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
    Eva Morava
    University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, Hungary
    Clin Dysmorphol 12:123-7. 2003
    ..Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome...
  97. ncbi request reprint Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
    Eva Morava
    Department of Medical Genetics and Child Development, Medical Faculty, University of Pecs, Józesf A u 7, 7623 Pecs, Hungary
    Eur J Pediatr 161:619-22. 2002
    ..Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone...