Jiddeke M van de Kamp
Affiliation: VU University Medical Center
Country: The Netherlands
- X-linked creatine transporter deficiency: clinical aspects and pathophysiologyJiddeke 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. ..
- 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...
- RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrixBenjamin 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. ..
- Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of CausesLaura A van de Pol
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Neuropediatrics 46:392-400. 2015..We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. ..
- 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...