Jiddeke M van de Kamp
Affiliation: VU University Medical Center
Country: The Netherlands
- Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ 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...
- Bifurcation of the femur with tibial agenesis and additional anomaliesJ 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...
- Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ 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...
- Long-term follow-up and treatment in nine boys with X-linked creatine transporter defectJiddeke 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...
- Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiencyOfir 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...
- CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur 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...
- Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosisMarijn 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...