Jiddeke M van de Kamp

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. doi request reprint X-linked creatine transporter deficiency: clinical aspects and pathophysiology
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, P O Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 37:715-33. 2014
  2. doi request reprint Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, P O Box 7057, Amsterdam 1007MB, The Netherlands
    J Med Genet 50:463-72. 2013
  3. ncbi request reprint Bifurcation of the femur with tibial agenesis and additional anomalies
    J M van de Kamp
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 138:45-50. 2005
  4. doi request reprint Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 79:264-72. 2011
  5. pmc Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:141-9. 2012
  6. doi request reprint Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    Ofir T Betsalel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Neurogenetics 9:183-90. 2008
  7. pmc CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
    Fleur S van Dijk
    Department of Clinical Genetics, VU University Medical Cen, Amsterdam, The Netherlands
    Eur J Hum Genet 17:1560-9. 2009
  8. doi request reprint RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 35:1128-35. 2014
  9. doi request reprint Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis
    Marijn J Vermeulen
    VU University Medical Center, Department of Neonatology, Amsterdam, The Netherlands
    Eur J Med Genet 52:417-20. 2009

Collaborators

Detail Information

Publications9

  1. doi request reprint X-linked creatine transporter deficiency: clinical aspects and pathophysiology
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, P O Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 37:715-33. 2014
    ..Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment. ..
  2. doi request reprint Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, P O Box 7057, Amsterdam 1007MB, The Netherlands
    J Med Genet 50:463-72. 2013
    ..Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking...
  3. ncbi request reprint Bifurcation of the femur with tibial agenesis and additional anomalies
    J M van de Kamp
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 138:45-50. 2005
    ..Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed...
  4. doi request reprint Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 79:264-72. 2011
    ..We conclude that testing for creatine transporter defect should be considered in females with (mild) mental retardation. Screening by DNA analysis of the SLC6A8 gene is recommended...
  5. pmc Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:141-9. 2012
    ..After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect...
  6. doi request reprint Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    Ofir T Betsalel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Neurogenetics 9:183-90. 2008
    ..This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation...
  7. pmc CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
    Fleur S van Dijk
    Department of Clinical Genetics, VU University Medical Cen, Amsterdam, The Netherlands
    Eur J Hum Genet 17:1560-9. 2009
    ..This approach will allow proper identification of the genetic cause of lethal or severe OI, which is important in providing prenatal diagnosis, preimplantation genetic diagnosis and estimating recurrence risk...
  8. doi request reprint RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 35:1128-35. 2014
    ..It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain. ..
  9. doi request reprint Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis
    Marijn J Vermeulen
    VU University Medical Center, Department of Neonatology, Amsterdam, The Netherlands
    Eur J Med Genet 52:417-20. 2009
    ..We present the first case of hydrops fetalis caused by FHLH, confirmed by DNA analysis. FHLH should be included in the differential diagnosis of non-immune hydrops fetalis and neonatal multiple organ failure...