Search Results - "Groothoff, Jaap"
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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
Published in The New England journal of medicine (01-04-2021)“…Primary hyperoxaluria type 1 is caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis…”
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20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia
Published in The New England journal of medicine (17-10-2019)“…Familial hypercholesterolemia is marked by very elevated low-density lipoprotein cholesterol levels and premature cardiovascular disease. This 20-year…”
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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Published in Nature reviews. Nephrology (01-03-2023)“…Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones,…”
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Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria
Published in Kidney international (01-03-2022)“…Primary hyperoxaluria (PH) is a family of ultra-rare autosomal recessive inherited disorders of hepatic glyoxylate metabolism characterized by oxalate…”
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ESPN2021: Interactive hybrid—the future of medical congresses?
Published in Pediatric nephrology (Berlin, West) (01-04-2022)Get full text
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Health-related quality of life in patients with pediatric onset of end-stage renal disease: state of the art and recommendations for clinical practice
Published in Pediatric nephrology (Berlin, West) (01-10-2016)“…Health-related quality of life (HRQoL) is increasingly recognized as a key outcome in both clinical and research settings in the pediatric population with…”
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Long-term consequences of renal insufficiency in children: lessons learned from the Dutch LERIC study
Published in Nephrology, dialysis, transplantation (01-04-2018)“…Few data exist on the prospects in adulthood for children on chronic renal replacement therapy (RRT). This article summarizes the results of a comprehensive…”
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Racial Disparities in Access to and Outcomes of Kidney Transplantation in Children, Adolescents, and Young Adults: Results From the ESPN/ERA-EDTA (European Society of Pediatric Nephrology/European Renal Association−European Dialysis and Transplant Association) Registry
Published in American journal of kidney diseases (01-02-2016)“…Background Racial disparities in kidney transplantation in children have been found in the United States, but have not been studied before in Europe. Study…”
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A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3
Published in Kidney international (01-09-2021)“…Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To…”
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Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial
Published in American journal of kidney diseases (01-02-2023)“…Lumasiran reduces urinary and plasma oxalate (POx) in patients with primary hyperoxaluria type 1 (PH1) and relatively preserved kidney function. ILLUMINATE-C…”
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Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial
Published in Clinical journal of the American Society of Nephrology (01-07-2021)“…In the rare disease primary hyperoxaluria type 1, overproduction of oxalate by the liver causes kidney stones, nephrocalcinosis, kidney failure, and systemic…”
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Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry
Published in Atherosclerosis (01-04-2020)“…Homozygous familial hypercholesterolemia (hoFH) may cause life-threatening atherosclerotic cardiovascular disease in childhood. Lipoprotein apheresis (LA) is…”
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Marked plaque regression in homozygous familial hypercholesterolemia
Published in Atherosclerosis (01-06-2021)“…Both plasma low-density lipoprotein (LDL) cholesterol levels and risk for premature cardiovascular disease are extremely elevated in patients with homozygous…”
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Mortality risk disparities in children receiving chronic renal replacement therapy for the treatment of end-stage renal disease across Europe: an ESPN-ERA/EDTA registry analysis
Published in The Lancet (British edition) (27-05-2017)“…Summary Background We explored the variation in country mortality rates in the paediatric population receiving renal replacement therapy across Europe, and…”
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Growth Patterns After Kidney Transplantation in European Children Over the Past 25 Years: An ESPN/ERA-EDTA Registry Study
Published in Transplantation (01-01-2020)“…BACKGROUND.Improved management of growth impairment might have resulted in less growth retardation after pediatric kidney transplantation (KT) over time. We…”
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Mortality risk in European children with end-stage renal disease on dialysis
Published in Kidney international (01-06-2016)“…We aimed to describe survival in European pediatric dialysis patients and compare the differential mortality risk between patients starting on hemodialysis…”
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Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review
Published in Journal of clinical lipidology (01-01-2019)“…Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that may cause life-threatening cardiovascular disease (CVD) at childhood. Marginal…”
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Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life
Published in Quality of life research (01-06-2018)“…Objectives To assess health-related quality of life (HRQoL) across three renal replacement therapy modalities (preemptive transplant, non-preemptive…”
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Glycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1
Published in Kidney international (01-05-2023)Get more information
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The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Published in Orphanet journal of rare diseases (02-06-2021)“…Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare…”
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