- E-postcamilla.tondel@uib.no
- Telefon+47 924 68 362
- BesøksadresseHaukeland universitetssykehus, Laboratoriebygget5009 Bergen
- PostadressePostboks 78045020 Bergen
Camilla Tøndel er professor i pediatri, MED9-semesterstyreleder og leder av Pediatric Follow-up Group ved Universitetet i Bergen. På Haukeland universitetssykehus jobber hun som barnenyrelege og leder av Klinisk forskningspost for barn og unge.
Hennes forskning er spesielt fokusert på nyremedisin, immunologi og kliniske utprøvingsstudier. Som del av styret i NorCRIN (siden 2012) og NorPedMed (siden 2014) jobber hun for mer behandlingsforskning gjennomført i Norge. Hun er ECRINs norske vitenskapelige representant, leder barnenefrologisk interessegruppe, er nasjonal ESPN-kontakt og har pediatrisk nefrologiansvar i CKJ editorial board.
Undervisningsgruppeleder (UGLE) i pediatri og MED9-semesterstyreleder.
MED9: Generell pediatri. AHLR. Pediatrisk farmakologi. Kroniske sykdommer og oppfølging. Pediatrisk nefrologi og reumatologi. Forgiftninger hos barn. Væskebehandling hos barn.
GCP901: Kursleder. Kurs i kliniske utprøvingsstudier.
MEDMET1: ICH-Good Clinical Practice
NUCLI352: Pediatrisk nefrologi
Vitenskapelig artikkel
- (2024). Impact of ageing on homologous and human-coronavirus-reactive antibodies after SARS-CoV-2 vaccination or infection. npj Vaccines. 9 sider.
- (2023). Systems analyses of the Fabry kidney transcriptome and its response to enzyme replacement therapy identified and cross-validated enzyme replacement therapy-resistant targets amenable to drug repurposing. Kidney International. 803-819.
- (2023). Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study. Orphanet Journal of Rare Diseases.
- (2023). Risk assessment and antibody responses to SARS-CoV-2 in healthcare workers. Frontiers in Public Health. 13 sider.
- (2023). Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation. Molecular Genetics and Metabolism. 7 sider.
- (2023). Renal Functional Response-Association With Birth Weight and Kidney Volume. Kidney International Reports. 1034-1042.
- (2023). Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla <sup> −/−</sup> zebrafish model of Fabry disease. Journal of Translational Medicine.
- (2023). Pharmacokinetics, Safety, and Tolerability of Imipenem/Cilastatin/Relebactam in Children with Confirmed or Suspected Gram-Negative Bacterial Infections: A Phase 1b, Open-Label, Single-Dose Clinical Trial. Journal of clinical pharmacology. 11 sider.
- (2023). Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: Results from the 2-year randomised phase III BALANCE study. Journal of Medical Genetics.
- (2023). Durable immune responses after BNT162b2 vaccination in home-dwelling old adults. Vaccine: X. 1-11.
- (2023). Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases. Kidney International.
- (2023). Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Frontiers of Medicine. 19 sider.
- (2023). Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy. Journal of Clinical Investigation. 15 sider.
- (2022). The performances of three commercially available assays for the detection of SARS‐CoV‐2 antibodies at different time points following SARS‐CoV‐2 infection. Viruses. 1-11.
- (2022). Symptom Burden and Immune Dynamics 6 to 18 Months Following Mild Severe Acute Respiratory Syndrome Coronavirus 2 Infection (SARS-CoV-2): A Case-control Study. Clinical Infectious Diseases.
- (2022). Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype. Molecular Genetics and Metabolism Reports. 1-11.
- (2022). Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up. Pediatric nephrology (Berlin, West). 1249-1256.
- (2022). Glomerular filtration rate in critically ill neonates and children: creatinine-based estimations versus iohexol-based measurements. Pediatric nephrology (Berlin, West).
- (2022). Gene Expression Analysis in gla-Mutant Zebrafish Reveals Enhanced Ca<sup>2+</sup> Signaling Similar to Fabry Disease. International Journal of Molecular Sciences.
- (2022). Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry registry. Molecular Genetics and Metabolism.
- (2022). A rapid antibody screening haemagglutination test for predicting immunity to SARS-CoV-2 variants of concern. Communications Medicine. 11 sider.
- (2022). A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease. Kidney International. 173-182.
- (2021). Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Molecular Genetics and Metabolism. 234-243.
- (2021). Randomised controlled trial showed long-term efficacy, immunogenicity and safety of varicella vaccines in Norwegian and Swedish children. Acta Paediatrica. 391-400.
- (2021). Pharmacokinetics and Safety of Single-dose Tedizolid Phosphate in Children 2 to <12 Years of Age. The Pediatric Infectious Disease Journal. 317-323.
- (2021). Low birthweight is associated with lower glomerular filtration rate in middle-aged mainly healthy women. Nephrology, Dialysis and Transplantation. 92-99.
- (2021). Long COVID in a prospective cohort of home-isolated patients. Nature Medicine. 1607-1613.
- (2021). Efficacy and safety of mirabegron in children and adolescents with neurogenic detrusor overactivity: An open‐label, phase 3, dose‐titration study. Neurourology and Urodynamics.
- (2021). Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. Molecular Genetics and Metabolism. 1-7.
- (2021). Cardiovascular changes in young renal failure patients. Clinical Kidney Journal (CKJ). 183-185.
- (2021). Attack rates amongst household members of outpatients with confirmed COVID-19 in Bergen, Norway: A case-ascertained study. The Lancet Regional Health - Europe. 9 sider.
- (2021). Accuracy of single intravenous access iohexol GFR in children is hampered by marker contamination. Scientific Reports. 7 sider.
- (2020). SARS-CoV-2-specific neutralizing antibody responses in Norwegian healthcare workers after the first wave of COVID-19 pandemic: a prospective cohort study. Journal of Infectious Diseases.
- (2020). Growth Differentiation Factor 15 in Children with Chronic Kidney Disease and after Renal Transplantation. Disease Markers. 1-8.
- (2020). Early Induction of Cross-Reactive CD8+ T-Cell Responses in Tonsils After Live-Attenuated Influenza Vaccination in Children. Journal of Infectious Diseases. 1528-1537.
- (2020). Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. Journal of the American Society of Nephrology. 865-875.
- (2019). The pharmacokinetics, safety, and tolerability of mirabegron in children and adolescents with neurogenic detrusor overactivity or idiopathic overactive bladder and development of a population pharmacokinetic model-based pediatric dose estimation. Journal of Pediatric Urology.
- (2019). Measurement of renal functional response using iohexol clearance-A study of different outpatient procedures. Clinical Kidney Journal (CKJ). 181-188.
- (2019). Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Molecular Genetics and Metabolism. 86-94.
- (2018). The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism. 1-12.
- (2018). Estimating glomerular filtration rate in children: evaluation of creatinine- and cystatin C-based equations. Pediatric nephrology (Berlin, West). 1-11.
- (2018). Effects of nutritional Vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease. Nephrology, Dialysis and Transplantation. 2208-2217.
- (2017). Renal Function Influences Diagnostic Markers in Serum and Urine: A Study of Guanidinoacetate, Creatine, Human Epididymis Protein 4, and Neutrophil Gelatinase–Associated Lipocalin in Children. The Journal of Applied Laboratory Medicine. 297-308.
- (2017). Pathomechanisms of renal Fabry disease. Cell and Tissue Research. 53-62.
- (2017). Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. American Society of Nephrology. Clinical Journal. 1470-1479.
- (2017). Iohexol plasma clearance in children: validation of multiple formulas and single-point sampling times. Pediatric nephrology (Berlin, West). 1-14.
- (2017). Hearing loss in children with Fabry disease. The Journal of Inherited Metabolic Disease (JIMD). 725-731.
- (2017). Bedside stereomicroscopy of Fabry kidney biopsies: An easily available method for diagnosis and assessment of sphingolipid deposits. Nephron. 13-21.
- (2016). Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrology, Dialysis and Transplantation. 807-813.
- (2016). One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLOS ONE.
- (2016). Live attenuated influenza vaccine in children induces b-cell responses in tonsils. Journal of Infectious Diseases. 722-731.
- (2016). Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times. Pediatric nephrology (Berlin, West). 311-320.
- (2015). Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document. Orphanet Journal of Rare Diseases. 1-10.
- (2015). Longevity of B-cell and T-cell responses after live attenuated influenza vaccination in children. Journal of Infectious Diseases. 1541-1549.
- (2015). Glomerular filtration rate measured by iohexol clearance: A comparison of venous samples and capillary blood spots. Scandinavian Journal of Clinical and Laboratory Investigation. 710-716.
- (2015). Foot process effacement is an early marker of nephropathy in young classic fabry patients without albuminuria. Nephron. 16-21.
- (2015). Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Molecular Genetics and Metabolism. 242-247.
- (2015). Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial. PLOS ONE.
- (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. 83-90.
- (2014). Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLOS ONE.
- (2013). Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. Journal of the American Society of Nephrology. 137-148.
- (2012). Safety and complications of percutaneous kidney biopsies in 715 children and 8573 adults in Norway 1988-2010. American Society of Nephrology. Clinical Journal. 1591-1597.
- (2012). Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. JIMD Reports.
- (2011). Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney International. 663-670.
- (2010). Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrology, Dialysis and Transplantation. 1507-1513.
- (2010). Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. European Journal of Clinical Investigation. 1104-1112.
- (2009). The MDRD equation may mask decline of glomerular filtration rate in Fabry patients with normal or nearly normal kidney function. Clinical Nephrology. 118-124.
- (2009). Monitoring renal Function in Fabry children: comparisons of measured and creatinine-based estimated Glomerular Filtration Rate. Nephrology, Dialysis and Transplantation. 7 sider.
- (2008). Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. American Journal of Kidney Diseases. 767-776.
- (2005). Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clinical Nephrology. 394-401.
- (2003). [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease] . Tidsskrift for Den norske legeforening.
- (2002). Behandling av Graves sykdom hos barn og unge. Pediatrisk Endokrinologi. 42-46.
Rapport
- (2023). Genteknologi i en bærekraftig fremtid. .
Vitenskapelig foredrag
- (2021). Cleared Podocytes and Normal Kidney Function in Classical Fabry Males 15 Years After Start of Enzyme Replacement Therapy at Young Age.
- (2019). Fabry Nephropathy: First mRNA-seq Findings from Kidney Biopsies Before and After Enzyme Replacement Therapy.
- (2015). Cellular immune responses after live attenuated influenza vaccination in children, a clinical trial.
- (2013). Podocytes: Therapeutic Target in Fabry Disease?
- (2010). 5 YEARS FOLLOW-UP RENAL BIOPSIES IN PAEDIATRIC AND ADULT FABRY PATIENTS ON ENZYME REPLACEMENT THERAPY.
- (2009). Corneal changes in Fabry's disease.
Leserinnlegg
- (2023). Mer faglighet fra naturbevegelsen, takk. Klassekampen.
- (2013). Small fibre neuropathy in Fabry disease. Journal of Neurology. 917-919.
- (2011). Fabry or not Fabry – a question of ascertainment. European Journal of Human Genetics. 1111-1112.
Kronikk
- (2023). Uetisk å la være å satse på genteknologi. Dagsavisen.
- (2023). På tide å åpne for genteknologi i norsk matproduksjon. Nationen.
- (2023). GMO-regler må ikke få stoppe utviklingen av avanserte terapier. Dagens medisin.
Brev til redaktøren
- (2023). Response to Birth Weight and Renal Functional Reserve in Adults. Kidney International Reports. 1700-1701.
Doktorgradsavhandling
- (2023). From archival tissues to systems biology: Using transcriptomics to investigate the progression of kidney disease.
- (2020). Estimation and measurement of glomerular filtration rate in children.
- (2017). Hereditary renal disease in the Norwegian population, with a focus on Fabry disease.
- (2013). Markers of nephropathy in young Fabry disease patients; role of kidney biopsies and functional measurement.
Intervju
- (2023). Bør alle norske barn vaksineres mot vannkopper?
- (2022). Lovende resultater av mulig ny behandling av Fabry sykdom: – Stor praktisk betydning.
- (2022). Katrine (47) har meldt seg frivillig til å teste en ny, norsk vaksine. Håpet er at den skal beskytte lenger enn de man har hatt til nå .
- (2021). Her settes første dose av norskutviklet koronavaksine.
- (2015). Kreft hos barn og betydning av klinisk utprøving hos barn.
- (2015). Har testet medisiner på 400 barn.
- (2014). Kampen mot kreft.
- (2014). Forskning på legemidler til barn må gjøres i Norge.
- (2013). Forskning på medisiner til barn, Ekko .
- (2013). Enzyme replacement in Fabry disease.
Programdeltagelse
- (2015). Liv og død-serien; Legemiddelutprøving hos barn.
Sammendrag/abstract
- (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. S68-S69.
- (2013). GLOMERULAR FILTRATION RATE (GFR) MEASURED BY IOHEXOL CLEARANCE IN CHILDREN; A COMPARISON BETWEEN VENOUS SAMPLES AND DRIED BLOOD SPOTS. Pediatric nephrology (Berlin, West). 1653-1654.
- (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. S99-S99.
- (2012). Mosaicism of Podocyte Involvement in Untreated Females with Fabry Disease. Molecular Genetics and Metabolism. S47-S48.
- (2010). RENAL FOLLOW-UP BIOPSIES IN YOUNG MALE FABRY PATIENTS ON ENZYME REPLACEMENT THERAPY. Clinical Therapeutics. S105-S107.
- (2009). Monitoring renal Function in Fabry children; estimated or measured glomerular Filtration rate? Molecular Genetics and Metabolism. 74-75.
- (2009). Fabry Disease: Unusual Symptoms in two Boys Treated with Lamotrigine and Fabrazyme, Respectively. Clinical Therapeutics. S43-S43.
- (2008). Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clinical Therapeutics. S42-S42.
Poster
- (2023). The spectrum of podocyte injury in later onset (LO) variants of Fabry disease (FD).
- (2023). Reduced renal function and other factors influence the measured level of glycosaminoglycans (GAGs) and could lead to diagnostic misinterpretation.
- (2023). Pooled analysis of the effect of pegunigalsidase alfa on renal function: Data from 113 patients in the pegunigalsidase alfa clinical trial program.
- (2023). Pooled analysis of the effect of pegunigalsidase alfa on renal function: Data from 113 patients in the pegunigalsidase alfa clinical trial program.
- (2023). Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study.
- (2023). First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study.
- (2023). Development of an online cloud-based tool for automatic measurement of foot process width (FPW) using deep learning (DL): Applications in assessment of podocyte injury in Fabry disease (FD).
- (2022). Safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Results from the phase 3, open-label, BRIGHT study.
- (2022). Pharmacokinetic (PK) Results From a Phase 3 Trial to Evaluate Pegunigalsidase Alfa Every 4 Weeks (Q4W) in Patients (Pts) With Fabry Disease Previously Treated With Agalsidase Beta or Agalsidase Alfa.
- (2022). Globotriaosylceramide (GL3) accumulation in Fabry podocytes in female patients is progressive with age and associated with podocyte loss and proteinuria.
- (2022). Capacity mapping and building for pediatric vaccine trials across Europe with VACCELERATE’s harmonized assessment tool.
- (2021). Synuclein Alpha Accumulation Drives Lysosomal Dysfunction in Fabry Podocytopathy.
- (2021). Pharmacokinetics, Safety, and Tolerability of Imipenem/Cilastatin/Relebactam in Pediatric Participants With Confirmed or Suspected Gram-negative Bacterial Infections: A Phase 1b, Open-label, Single-dose Clinical Trial.
- (2020). Systems Analyses of Renal Fabry Transcriptome and Response to Enzyme Replacement Therapy (ERT) Identifies a Cross-Validated and Druggable ERT-Resistant Module.
- (2020). Switching from agalsidase alfa to pegunigalsidase alfa for treating Fabry disease: One year of treatment data from BRIDGE, a phase III open label study .
- (2020). Switching from Agalsidase Alfa to Pegunigalsidase Alfa for Treating Fabry Disease: One Year of Treatment Data from Bridge, a Phase 3 Open-Label Study.
- (2020). Low Birth Weigth Is Associated With Lower Measured Glomerular Filtration Rate In Adult Age.
- (2020). Diagnosis of AKI using Iohexol in critically ill children and neonates: preliminary results of the HERO study.
- (2019). Prelimenary Results of the Fabry Disease Phase III Open Label Study of Switching from Agalsidase Alfa to Pegunigalsidase Alfa.
- (2019). Pegunigalsidase alfa for the treatment of Fabry disease - Phase III open label, switch over study from agalsidase alfa - Preliminary results.
- (2019). Once every 4 weeks 2 mg/kg of pegunigalsidase alfa for treating Fabry disease- preliminary result of a phase 3 study.
- (2019). New Regimen of Once Every 4 Weeks 2 mg/kg of Pedunigalsidase Alfa for Treating Fabry Disease - Prelimenary Results of a Phase 3 Study.
- (2019). Measurement of renal functional response using iohexol clearance.
- (2019). Clinical Consequences of Paired Cardiac and Kidney Biopsies in a Treatment Naive Female Fabry Patient with a Classical Mutation and Minor Clnical Symptoms.
- (2019). Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa Phase III BALANCE study .
- (2019). Accumulation of Globotriaosylceramide in Podocytes (PC) in Fabry Nephropathy Is Associated with Progressive PC Loss.
- (2018). SINGLE INTRAVENOUS ACCESS FOR MEASUREMENT OF GLOMERULAR FILTRATION RATE IN CHILDREN AFTER MARKER INJECTION.
- (2018). Podocyte structural parameters predict glomerular filtration rate (GFR) loss in male patients with classic Fabry disease.
- (2018). KIDNEY-SPECIFIC THERAPEUTIC GOALS FOR FABRY DISEASE BASED ON EUROPEAN EXPERT CONSENSUS RECOMMENDATIONS AND SYSTEMATIC REVIEW OF PUBLISHED EVIDENCE.
- (2018). IOHEXOL CLEARANCE IN CHILDREN WITH LOW GFR: COMPARISON OF 24 HOURS SINGLE-POINT GFR AND MULTIPLE-POINT GFR.
- (2018). Fabry nephropathy: Transcriptome sequencing of microdissected renal compartments from archival kidney biopsies at baseline, and after 5 & 10 years of enzyme replacement therapy.
- (2017). Single-point iohexol plasma clearance in children: validation of multiple formulas and sampling times.
- (2017). Simplified Clinical Pre-histologic Scoring Method of Kidney Biopsies in Fabry Disease.
- (2017). Podocyte globotriaosylceramide (GL-3) content strongly impacts age-dependent podocyte loss in ERT-naïve male Fabry patients.
- (2017). A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from superficial skin capillary endothelium.
- (2017). A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells.
- (2016). Podocyte Hypertrophy and Globotriaosylceramide (GL-3) Accumulation Are Strong Predictors of Podocyte Loss in Enzyme Replacement Therapy Naïve Male Patients with Fabry Disease.
- (2016). Glomerular filtration rate (GFR) strongly influences guanidinoacetic acid (GAA) in plasma and urine.
- (2016). GDF-15 in plasma and urine as a marker of kidney function in children .
- (2016). Differential response of glomerular parietal epithelial cells and podocytes to enzyme replacement therapy in Fabry nephropathy.
- (2015). Podocyte Globotriaosylceramide (GL3) Accumulation in Fabry Disease Is Influenced by Age and Genotype .
- (2015). LONG-TERM ENZYME REPLACEMENT THERAPY (ERT) BENEFITS THE GLOMERULI MORE THAN THE VASCULATURE IN YOUNGER FABRY NEPHROPATHY .
- (2015). FABRY DISEASE DIAGNOSED IN LIVING DONOR KIDNEY TRANSPLANT BIOPSY.
- (2015). DIFFERENTIAL KIDNEY EFFECTS OF HIGH AND LOW ENZYME DOSE IN MALE SIBLINGS TREATED FOR 13 YEARS .
- (2014). Renal Biopsies after 6-11 Years of Enzyme Replacement Therapy in 9 Young Classic Fabry Disease Patients.
- (2014). Five Children with Fabry Disease and Significant Tissue Damage in Renal Biopsies Despite Normal Clinical Renal Parameters.
- (2014). Fabry nephropathy (FN) outcome and the impact of diagnostic kidney biopsies after 10 years enzyme replacement therapy (ERT).
- (2014). Enzyme Replacement Therapy (ERT) in Fabry Disease (FD) Reduces Podocyte (PC) Globotriaosylceramide (GL3) Content within a Year (yr).
- (2014). Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease.
- (2013). Glomerular filtration rate (GFR) measured by iohexolclearance in children; how many sample points are necessary?
- (2013). Glomerular Filtration Rate (GFR) measured by Iohexol Clearance in Children; a comparison between venous samples and dried spots.
- (2009). Renal follow-up biopsies in young male Fabry patients on enzyme replacement therapy.
- (2008). Renal biopsies in children in Norway 1988-2005: clinical variables, complications and prognosis.
- (2008). Formula GFR overestimates Renal Function in Children and Adult Males with Fabry Disease and Stage 1-2 CKD.
- (2008). Fabry disease: Unusual symptoms in two male children treated with lamotrigine and fabrazyme, respectively.
Errata
- (2016). Erratum to: Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times (Pediatric Nephrology, (2017), 32, 2, (311-320), 10.1007/s00467-016-3436-z). Pediatric nephrology (Berlin, West). 375-376.
Vitenskapelig oversiktsartikkel/review
- (2023). An expert consensus on the recommendations for the use of biomarkers in Fabry disease. Molecular Genetics and Metabolism. 13 sider.
- (2022). Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues. Molecular Genetics and Metabolism. 328-341.
- (2018). European expert consensus statement on therapeutic goals in Fabry disease. Molecular Genetics and Metabolism. 189-203.