A5065443605- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Adolescent and Pediatric Healthcare
- Autoimmune and Inflammatory Disorders Research
- Mitochondrial Function and Pathology
- Drug Transport and Resistance Mechanisms
- Erythrocyte Function and Pathophysiology
- Kawasaki Disease and Coronary Complications
- Genomics and Rare Diseases
- Alcoholism and Thiamine Deficiency
- Lymphoma Diagnosis and Treatment
- Neurological and metabolic disorders
- Advanced Neuroimaging Techniques and Applications
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
University of Amsterdam
2016-2022
Amsterdam University Medical Centers
2019-2022
Emma Kinderziekenhuis
2018-2022
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by severe deficiency the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective treat neonatal life-threatening manifestations and been cornerstone treatment for this disease. However, burdensome complications occur despite lifelong diet. For diseases, patient disease specific registry fundamental monitor lifespan pathology evaluate safety efficacy...
Abstract Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, there an urgent need for prognostic biomarkers. aim this study was first to increase knowledge on natural history by studying a cohort with varying geno- phenotypes second association between outcomes two possible In addition, abnormalities brain MRI investigated....
Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG than the population. Both problems social functioning well internalizing are often reported patients. The combination of intelligence, functioning, behavior has not been studied...
Abstract Low bone mineral density (BMD) as a risk factor for fractures has been long‐standing concern in phenylketonuria (PKU). It is hypothesised that the disease itself or dietary treatment might lead to low BMD. Previous studies show conflicting results of BMD PKU due differences age, techniques assess and criteria used. To prevalence define possible factors large number adult, early treated (ETPKU) patients. European centres were invited survey, collecting retrospective data including...
Classical Galactosemia (CG) is an inherited disorder of galactose metabolism caused by a deficiency the galactose-1-phosphate uridylyltransferase (GALT) enzyme resulting in neurocognitive complications. As many Inborn Errors Metabolism, metabolic pathway CG well-defined, but pathophysiology and high variability clinical outcome are poorly understood. The aim this study was to investigate structural changes brain patients on MRI their association with outcome. In prospective cohort protocol...
Abstract Background Inborn errors of metabolism (IEM) are a group rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system other organs. Some carry risk progression / or potentially life-threatening crises. Many patients have to adhere lifelong dietary drug treatment. The complexity makes it difficult for caregivers understand their pathophysiology, inheritance therapy rationale. Especially reaching adolescence may only limited knowledge...
Surgery and anesthesia pose a threat to patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), because prolonged fasting, stress, pain are known risk factors for the induction of metabolic derangement. The optimal perioperative management in these is unknown use volatile agents dissolved fatty acids has been related postoperative complications. However, occurrence derangement multifactorial depends, amongst others, on severity mutation residual enzyme activity. Current...
Synovial thickening detected on magnetic resonance imaging (MRI) is present in a significant number of children with clinically inactive juvenile idiopathic arthritis (JIA). To evaluate patient characteristics and disease activity parameters cohort JIA, both without synovial thickening, order to clarify the observed discrepancy between clinical MRI assessments. We prospectively enrolled 52 JIA patients (median age 13.3 years, 63.5% girls) who underwent knee as major target joint JIA....
Classical galactosemia (CG) patients frequently develop long-term complications despite early dietary treatment. The highly variable clinical outcome is poorly understood and a lack of prognostic biomarkers hampers individual prognostication aim this study was to investigate the association between residual galactose oxidation capacity biochemical outcomes in CG with varying geno- phenotypes. noninvasive 1-13 C breath test used assess whole body capacity. Participants received 7 mg/kg oral...
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance prognostic biomarkers, which are currently lacking. aim this study was to investigate if residual galactose metabolism capacity associated biochemical outcomes CG varying geno- phenotypes.Galactose Metabolite Profiling (GMP) used determine fibroblasts patients. association between index (GI) defined as ratio measured metabolites [U13C]Gal-1-P/...