Camilla
Tøndel
Researcher
, MD PhD, consultant pediatrician
Visit Address:
Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
5021 Bergen
Postal Address:
Postboks 7804
5021 Bergen
Phone:
+47 55 97 38 59
E-mail:
Journal articles
- 2014. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up. JIMD Reports. 8 pages.
- 2014. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Molecular Genetics and Metabolism. 6 pages. Published 2014-08-20. doi: 10.1016/j.ymgme.2014.08.007
- 2013. Small fibre neuropathy in Fabry disease. Journal of Neurology. 260: 917-919. doi: 10.1007/s00415-012-6800-3
- 2013. Renal structural-functional relationship (SFR) studies suggest that podocyte GL-3 accumulation predicts urine protein creatinine ratio in Fabry disease (FD) nephropathy (FDN). Molecular Genetics and Metabolism. 108: S68-S69. doi: 10.1016/j.ymgme.2012.11.178
- 2013. GLOMERULAR FILTRATION RATE (GFR) MEASURED BY IOHEXOL CLEARANCE IN CHILDREN; A COMPARISON BETWEEN VENOUS SAMPLES AND DRIED BLOOD SPOTS. Pediatric nephrology (Berlin, West). 28: 1653-1654.
- 2013. Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. Journal of the American Society of Nephrology. 24: 137-148. doi: 10.1681/ASN.2012030316
- 2013. A randomized, multicenter, multinational, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms: Baseline demographics and clinical data. Molecular Genetics and Metabolism. 108: S99-S99. doi: 10.1016/j.ymgme.2012.11.272
- 2012. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. JIMD Reports. doi: 10.1007/8904_2012_160
- 2012. Mosaicism of Podocyte Involvement in Untreated Females with Fabry Disease. Molecular Genetics and Metabolism. 105: S47-S48. doi: 10.1016/j.ymgme.2011.11.118
- 2012. Safety and complications of percutaneous kidney biopsies in 715 children and 8573 adults in Norway 1988-2010. American Society of Nephrology. Clinical Journal. 7: 1591-1597. doi: 10.2215/CJN.02150212
- 2011. Fabry or not Fabry – a question of ascertainment. European Journal of Human Genetics. 19: 1111-1112. doi: 10.1038/ejhg.2011.87
- 2011. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney International. 79: 663-670. doi: 10.1038/ki.2010.484
- 2010. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. European Journal of Clinical Investigation. 40: 1104-1112. doi: 10.1111/j.1365-2362.2010.02363.x
- 2010. RENAL FOLLOW-UP BIOPSIES IN YOUNG MALE FABRY PATIENTS ON ENZYME REPLACEMENT THERAPY. Clinical Therapeutics. 32: S105-S107.
- 2010. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrology, Dialysis and Transplantation. 25: 1507-1513. doi: 10.1093/ndt/gfp658
- 2009. The MDRD equation may mask decline of glomerular filtration rate in Fabry patients with normal or nearly normal kidney function. Clinical Nephrology. 71: 118-124.
- 2009. Fabry Disease: Unusual Symptoms in two Boys Treated with Lamotrigine and Fabrazyme, Respectively. Clinical Therapeutics. 31: S43-S43.
- 2009. Monitoring renal Function in Fabry children: comparisons of measured and creatinine-based estimated Glomerular Filtration Rate. Nephrology, Dialysis and Transplantation. 7 pages. Published 2009-12-27. doi: 10.1093/ndt/gfp658
- 2009. Monitoring renal Function in Fabry children; estimated or measured glomerular Filtration rate? Molecular Genetics and Metabolism. 98: 74-75. doi: 10.1093/ndt/gfp658
- 2008. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. American Journal of Kidney Diseases. 51: 767-776. doi: 10.1053/j.ajkd.2007.12.032
- 2008. Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clinical Therapeutics. 30: S42-S42. doi: 10.1016/S0149-2918(08)80036-7
- 2005. Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clinical Nephrology. 63: 394-401.
Reports and theses
- 2013. Markers of nephropathy in young Fabry disease patients; role of kidney biopsies and functional measurement. University of Bergen.
More information in national current research information system (CRIStin)
