A5018875125- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lysosomal Storage Disorders Research
- Lipid metabolism and disorders
- Sphingolipid Metabolism and Signaling
- Genetic factors in colorectal cancer
- Autoimmune and Inflammatory Disorders Research
- Hormonal Regulation and Hypertension
- Cholesterol and Lipid Metabolism
- Autism Spectrum Disorder Research
- Thyroid Disorders and Treatments
- Atherosclerosis and Cardiovascular Diseases
- Liver Disease Diagnosis and Treatment
- Pharmaceutical Economics and Policy
- Pancreatitis Pathology and Treatment
- Aortic Thrombus and Embolism
- Systemic Lupus Erythematosus Research
- Inflammasome and immune disorders
- Calcium signaling and nucleotide metabolism
- Human Health and Disease
- Blood Pressure and Hypertension Studies
- Studies on Chitinases and Chitosanases
- Estrogen and related hormone effects
- Metabolism and Genetic Disorders
Radboud University Medical Center
2024-2025
Radboud University Nijmegen
2024-2025
University of Amsterdam
2012-2024
Amsterdam University Medical Centers
2018-2024
Amsterdam UMC Location University of Amsterdam
2011-2023
Center for Vascular Biology Research
2017
University of Palermo
2016
University of Cape Town
2016
Center for Human Genetics
2013
Wellcome Sanger Institute
2012
AimsHomozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin–kexin type 9 (PCSK9), is characterized elevated plasma lipoprotein-cholesterol (LDL-C) levels and high risk for premature cardiovascular (CVD). The exact prevalence of molecularly defined hoADH unknown. Therefore, we investigated the phenotypical characteristics this open society, i.e....
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers good care. There are no published national or international consensus guidelines for management of patients with ASMD. For these reasons, we have developed clinical that defines standard care ASMD patients.The information contained was obtained through systematic literature review experiences authors...
Although the association between circulating levels of lipoprotein(a) [Lp(a)] and risk coronary artery disease (CAD) stroke is well established, its role in peripheral arterial (PAD) remains unclear. Here, we examine Lp(a) PAD a large prospective cohort. To contextualize these findings, also examined CAD studied low-density lipoprotein as an effect modifier Lp(a)-associated cardiovascular risk.Lp(a) were measured apparently healthy participants European Prospective Investigation Cancer...
Background— Patients with PCSK9 gene gain of function (GOF) mutations have a rare form autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore, no randomized treatment study in this population has been reported. Methods Results— We compiled GOF mutation carriers multinational retrospective, cross-sectional, observational study. then performed placebo-phase, double-blind alirocumab 150 mg administered...
AimsHomozygous familial hypercholesterolaemia (HoFH) is a rare disorder usually caused by mutations in both alleles of the low-density lipoprotein receptor gene (LDLR). Premature death, often before age 20 years, was common fate for patients with HoFH prior to introduction statins 1990 and use apheresis. Consequently, has been widely considered condition exclusive population comprising very young extremely high LDL cholesterol (LDL-C) levels. However, recent epidemiologic genetic studies...
Autosomal Dominant Hypercholesterolemia (ADH) is caused by LDLR and APOB mutations. However, genetically diagnosed ADH patients do not always exhibit the expected hypercholesterolemic phenotype. Of 4,669 patients, identified through national identification screening program for ADH, 75 (1.6%) had LDL-cholesterol (LDL-C) levels below 50th percentile age gender prior to lipid-lowering therapy. The genes encoding APOB, PCSK9, ANGPTL3 were sequenced in these subjects address whether monogenic...
The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage disorders with overlapping clinical manifestations. We compared cross-sectional data on visceral, hematological, biochemical manifestations of untreated adult patients ASMD (
Abstract Acid sphingomyelinase deficiency (ASMD) is an ultra‐rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations the subtype are variable and encompass different degrees hepatosplenomegaly, pulmonary dyslipidemia. The aim this study was provide insights into natural course adult patients subtype. Based on these insights, we proposed tentative criteria for initiation follow‐up enzyme...
ABSTRACT Despite life‐long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about treatments. Therapeutic options range from disease‐specific, with varying levels of effectiveness, to purely supportive. This spectrum is illustrated the three diseases Gaucher disease type 1 (effective disease‐specific therapies), Fabry (disease‐specific therapies variable effectiveness), and mucopolysaccharidosis III A/B (supportive care only)....