A5086620509- Metabolism and Genetic Disorders
- Peroxisome Proliferator-Activated Receptors
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- RNA regulation and disease
- Biochemical and Molecular Research
- Fetal and Pediatric Neurological Disorders
- Cancer, Hypoxia, and Metabolism
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Diet and metabolism studies
- Advanced Neuroimaging Techniques and Applications
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Metabolism, Diabetes, and Cancer
- Drug Transport and Resistance Mechanisms
- Genetics and Neurodevelopmental Disorders
- Adenosine and Purinergic Signaling
- Liver Disease Diagnosis and Treatment
- Pediatric Hepatobiliary Diseases and Treatments
- Gout, Hyperuricemia, Uric Acid
- Genomics and Rare Diseases
- Inflammasome and immune disorders
Emma Kinderziekenhuis
2012-2024
Amsterdam University Medical Centers
2019-2024
University of Amsterdam
2011-2020
Amsterdam UMC Location University of Amsterdam
2011-2020
OLVG
2020
Montreal Neurological Institute and Hospital
2016
McGill University
2016
Boston Children's Hospital
1994-2013
Wilhelmina Children's Hospital
1994-2010
University Medical Center Utrecht
2000-2010
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease caused by mutations in ABCD1 gene that encodes membrane protein ALDP which involved transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect results elevated levels VLCFA plasma and tissues. clinical spectrum males with X-ALD ranges from isolated adrenocortical insufficiency slowly progressive myelopathy to devastating cerebral demyelination. majority heterozygous females will...
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene majority of patients and results impaired glucose transport into brain. From 2004–2008, 132 requests for mutational analysis were studied automated Sanger sequencing multiplex ligation-dependent probe amplification. Mutations detected 54 (41%) subsequently three clinically affected family members. In these 57 we identified 49 different mutations, including six multiple exon deletions, known 37 novel (13...
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease caused by mutations in ABCD1 gene that encodes transporter of very long-chain fatty acids. A defect protein results elevated levels acids plasma and tissues. clinical spectrum males with has been well described ranges from isolated adrenocortical insufficiency slowly progressive myelopathy to devastating cerebral demyelination. As many diseases, it was assumed female carriers remain asymptomatic only a few...
Abstract Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar variable atrophy the cerebellum and ventral pons. Supratentorial involvement reflected by neocortical atrophy, ventriculomegaly microcephaly. Mutations in transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated pontocerebellar types 2 4. mitochondrial arginyl synthetase gene (RARS2) type...
Background and Purpose— Cerebral sinovenous thrombosis is a rare disease with severe neurological sequelae. The aim of this retrospective multicenter study was to investigate the clinical course, possible risk factors, outcome cohort neonatal patients and, second, estimate incidence in Netherlands. Methods— From January 1999 March 2009, review all from 6 tertiary intensive care units performed. Population characteristics, presentation, (prothrombotic) neuroimaging, interventions,...
D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series patients have been published, these do not give a complete balanced picture the clinical biochemical spectrum associated with this disorder.To improve early recognition, diagnosis, prognosis, management disorder to provide markers for life expectancy, we performed extensive studies in large cohort protein-deficient sent out questionnaires about...
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on progression rates are essential. Moreover, diagnosis can be challenging ALD women, as the most important diagnostic biomarker normal 15–20%. Better biomarkers needed. The purpose this single centre cross-sectional follow-up study was to assess whether Expanded Disability Status Scale (EDSS), AMC Linear...
Phytanic acid and pristanic are branched-chain fatty acids, present at micromolar concentrations in the plasma of healthy individuals. Here we show that both phytanic activate peroxisome proliferator-activated receptor α (PPARα) a concentration-dependent manner. Activation is observed via ligand-binding domain PPARα as well PPAR response element (PPRE). Via PPRE significant induction found with 3 1 μM, respectively. The trans-activation PPARδ PPARγ by these two ligands negligible. Besides...
<b>Objective: </b> To identify clinical, radiologic, or CSF factors that predict conversion to multiple sclerosis (MS) after a first attack of inflammatory demyelination in children. <b>Methods: In this nationwide retrospective multicenter study the Netherlands, 117 children below age 16 were included. Fifty-four presented with monofocal clinically isolated syndrome (CIS) and 63 polyfocal CIS (PCIS). <b>Results: A second MS-defining occurred 43% cases, compared 21% patients PCIS onset...