A5059729488- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Venous Thromboembolism Diagnosis and Management
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Biomedical Research and Pathophysiology
- Iron Metabolism and Disorders
- Diagnosis and Treatment of Venous Diseases
- ATP Synthase and ATPases Research
- Folate and B Vitamins Research
- Hemoglobinopathies and Related Disorders
- Central Venous Catheters and Hemodialysis
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Atrial Fibrillation Management and Outcomes
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- Blood Coagulation and Thrombosis Mechanisms
- Erythrocyte Function and Pathophysiology
- Methemoglobinemia and Tumor Lysis Syndrome
- Porphyrin Metabolism and Disorders
- Trace Elements in Health
- Neurogenetic and Muscular Disorders Research
Radboud University Medical Center
2016-2025
Radboud Institute for Molecular Life Sciences
2016-2025
Radboud University Nijmegen
2016-2025
Amalia Kinderziekenhuis
2014-2024
University Medical Center
2017-2024
United States Nuclear Regulatory Commission
2023
Allen Institute for Brain Science
2023
Geneeskundige en Gezondheidsdienst
2023
Amsterdam University Medical Centers
2022
University of Amsterdam
2022
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It most common cause of inherited renal Fanconi syndrome young children. Because its rarity, diagnosis and specific treatment cystinosis are frequently delayed, has significant impact on overall prognosis. In this document, we have summarized expert opinions several aspects disease to improve knowledge provide guidance treatment.
The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation genetic variants. In the field inborn errors metabolism (IEM), diverse spectrum targeted biochemical assays is employed to analyze limited amount metabolites. We now present single-platform, high-resolution liquid chromatography quadrupole time flight (LC-QTOF) method that can be applied holistic metabolic profiling plasma individual IEM-suspected patients. This method, which...
The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need strict phenylalanine (Phe)-restricted diet. Physicians and lack evidence-based guidelines to help them make well-informed choices. We have carried out first randomised double-blind placebo-controlled trial into effects short-term elevation Phe levels on neuropsychological functions mood adults with PKU. Nine continuously treated PKU underwent two 4-week supplementation periods: one Phe, mimicking normal...
Abstract The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this have been described, most frequently being maternally inherited diabetes and deafness (MIDD). mutation, can be detected in virtually all tissues, however heteroplasmy differs between samples. Recent reports indicate, a preference to perform analysis urinary epithelial cells (UEC). To test this, study correlation mutational load different tissues two...
It has been suggested that abnormalities in the immune response play a role pathogenesis of essential hypertension (EH). The aim this study was to assess circulating concentrations and ex vivo production pro-inflammatory cytokines tumour necrosis factor-alpha (TNF-alpha) interleukin-1beta (IL-1beta), anti-inflammatory IL-1 receptor antagonist (IL-1ra) IL-6, patients with EH compare them healthy volunteers.Plasma cytokine were measured control volunteers by specific radioimmunoassays ELISA....
Studies measuring the fibrin degradation product D-Dimer (DD) using enzyme-linked immunosorbent assays (ELISA) in patients with venographically proven deep venous thrombosis (DVT) suggest that it is possible to exclude DVT when DD level below a certain cut-off level. However, ELISA methods are time-consuming and not available all laboratories. Different rapid latex-agglutination have been investigated, but their sensitivity considerably lower. In present study we compared value of four novel...
Summary The ability to predict severity of the post-thrombotic syndrome (PTS) early after acute deep-vein thrombosis (DVT) is limited. aim our study was examine incidence PTS prospectively and evaluate predictive value non-invasive venous examinations shortly DVT for development PTS. In 93 patients with score (TS), reflux, outflow resistance (VOR) calf muscle pump dysfunction (CMP) were examined prospectively. After one, two six years evaluated using clinical scale CEAP-classification (PTS...
ABSTRACT Objectives Pre‐eclampsia (PE) is associated with both postpartum structural asymptomatic heart disease (i.e. failure Stage B (HF‐B)) and conventional cardiovascular (CV) risk factors. We aimed to evaluate the extent which PE, adjusted for CV factors, independently cardiac abnormalities postpartum. Methods In this cross‐sectional cohort study, 107 formerly pre‐eclamptic women 41 uneventful previous pregnancy (controls) were invited assessment 4–10 years This included ultrasound,...
Non-transferrin-bound iron and its labile (redox active) plasma component are thought to be potentially toxic forms of originally identified in the serum patients with overload. We compared ten worldwide leading assays (6 for non-transferrin-bound 4 iron) as part an international inter-laboratory study. Serum samples from 60 four different iron-overload disorders various treatment phases were coded sent duplicate analysis five laboratories worldwide. Some provided multiple assays. Overall,...
Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning social skills.Ninety five PKU-patients (mean age 21.6 ± 10.2 years) 95 healthy controls 19.6 8.7 were compared on performance computerized paper-and-pencil tasks measuring abilities parent- self-reported...
Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in often been associated with phenylalanine levels. The present study examined the cognitive profile mental health adult phenylketonuria, relation levels tetrahydrobiopterin treatment.Fifty-seven treated 57 matched controls (18-40 years) performed subtests function tests from Amsterdam Neuropsychological Tasks. They also completed Adult...
HFE C282Y-homozygosity has been associated with low hepcidin expression, leading to increased ferritin levels. However, serum protein levels have not documented in humans. In the current study, we compared of newly diagnosed C282Y-homozygotes (N = 15) and without 7) elevated 40 controls (20 heterozygotes 20 wild types). addition, four C282Y homozygotes were investigated during course all phlebotomy treatment phases. Serum lower (median; 25th-75th percentile: 1.88; 0.78-2.77 nmol/l) (2.74;...
Standard treatment of newly diagnosed HFE hemochromatosis patients is phlebotomy. Erythrocytapheresis provides a new therapeutic modality that can remove up to three times more red blood cells per single procedure and could thus have clinical economic benefit.To compare the number procedures between erythrocytapheresis phlebotomy needed reach serum ferritin (SF) target level 50 µg/L, two-treatment-arms, randomized trial was conducted in which 38 homozygous for C282Y were randomly assigned...
The iron-regulating hormone hepcidin is a promising biomarker in the diagnosis of iron disorders. Concentrations have been shown to increase during day individuals who are following regular diet. It currently unknown whether these increases determined by an innate rhythm or other factors. We aimed assess effect dietary on concentrations day.Within 7-day interval, 32 volunteers received iron-deficient diet 1 and same supplemented with 65 mg ferrous fumarate at 0815 1145 another day. Blood was...
Hepatopathy is the most common feature in Congenital Disorders of Glycosylation (CDG). More than 70 subtypes have been identified this growing group inborn errors. Most defects present as multisystem disease, whereas phosphomannose isomerase deficiency (MPI-CDG) presents with exclusive hepato-intestinal phenotype. MPI-CDG has considered one very few treatable disorders glycosylation; several patients showed significant improvement their life-threatening protein-losing enteropathy and...
Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated control its history. For present study executive functioning (EF) was assessed 21 PKU patients during childhood (T1, mean age 10.4 years, SD = 2.0) again adulthood (T2, 25.8 2.3). At T2 additional assessments of EF daily life were performed. Childhood (i.e. 0-12 years) blood phenylalanine significantly related to cognitive flexibility, motor control, at...