T G J Derks

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. ncbi request reprint Safe and unsafe duration of fasting for children with MCAD deficiency
    Terry G J Derks
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 166:5-11. 2007
  2. ncbi request reprint The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study
    Terry G J Derks
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre, Groningen, The Netherlands
    Eur J Hum Genet 13:947-52. 2005
  3. ncbi request reprint Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
    Ernie M H F Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Hum Genet 13:935-46. 2005
  4. ncbi request reprint The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    Terry G J Derks
    Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 148:665-670. 2006
  5. doi request reprint Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
    T G J Derks
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 31:88-96. 2008
  6. doi request reprint Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice
    Terry G J Derks
    Department of Pediatrics, Laboratory of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hepatology 47:1032-42. 2008
  7. ncbi request reprint Acute hepatic steatosis in mice by blocking beta-oxidation does not reduce insulin sensitivity of very-low-density lipoprotein production
    Aldo Grefhorst
    Center for Liver, Digestive and Metabolic Diseases, Laboratory of Pediatrics, Univ Medical Center Groningen, Groningen, The Netherlands
    Am J Physiol Gastrointest Liver Physiol 289:G592-8. 2005
  8. ncbi request reprint Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands
    Christian S van der Hilst
    Office for Medical Technology Assessment, University of Groningen, University Medical Center Groningen, The Netherlands
    J Pediatr 151:115-20, 120.e1-3. 2007
  9. doi request reprint Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice
    Hilde Herrema
    Laboratory of Pediatrics, Center for Liver, Digestive, and Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hepatology 47:1894-904. 2008

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Safe and unsafe duration of fasting for children with MCAD deficiency
    Terry G J Derks
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 166:5-11. 2007
    ....
  2. ncbi request reprint The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study
    Terry G J Derks
    Department of Metabolic Diseases, Beatrix Children s Hospital, University Medical Centre, Groningen, The Netherlands
    Eur J Hum Genet 13:947-52. 2005
    ..28, 95% CI 0.20-0.37). The agreement between the latter two estimates supports incomplete selection and the segregation proportions were in agreement with normal mendelian autosomal recessive inheritance...
  3. ncbi request reprint Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
    Ernie M H F Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Hum Genet 13:935-46. 2005
    ..We suggest that the NPS phenotype is broader than previously described and that NTG and hearing impairment are part of NPS. Further studies on modifier factors are needed to understand the mechanisms underlying phenotypic heterogeneity...
  4. ncbi request reprint The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    Terry G J Derks
    Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 148:665-670. 2006
    ..To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  5. doi request reprint Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
    T G J Derks
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 31:88-96. 2008
    ..Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results...
  6. doi request reprint Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice
    Terry G J Derks
    Department of Pediatrics, Laboratory of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hepatology 47:1032-42. 2008
    ..Hence, fully active mFAO is not essential for maintenance of hepatic GNG in vivo in fasted mice...
  7. ncbi request reprint Acute hepatic steatosis in mice by blocking beta-oxidation does not reduce insulin sensitivity of very-low-density lipoprotein production
    Aldo Grefhorst
    Center for Liver, Digestive and Metabolic Diseases, Laboratory of Pediatrics, Univ Medical Center Groningen, Groningen, The Netherlands
    Am J Physiol Gastrointest Liver Physiol 289:G592-8. 2005
    ....
  8. ncbi request reprint Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands
    Christian S van der Hilst
    Office for Medical Technology Assessment, University of Groningen, University Medical Center Groningen, The Netherlands
    J Pediatr 151:115-20, 120.e1-3. 2007
    ..To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population...
  9. doi request reprint Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice
    Hilde Herrema
    Laboratory of Pediatrics, Center for Liver, Digestive, and Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hepatology 47:1894-904. 2008
    ..APR-associated hypoglycemia, which was observed in wild-type mice as well as MCAD(-/-) mice, was mainly due to enhanced peripheral glucose uptake...