A5077594681- Lipoproteins and Cardiovascular Health
- Acute Myeloid Leukemia Research
- Epigenetics and DNA Methylation
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Genomics and Chromatin Dynamics
- Nuclear Receptors and Signaling
- Antifungal resistance and susceptibility
- Platelet Disorders and Treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer Genomics and Diagnostics
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cancer, Lipids, and Metabolism
- Chronic Myeloid Leukemia Treatments
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Systemic Lupus Erythematosus Research
- Cholesterol and Lipid Metabolism
Montreal Clinical Research Institute
2021-2024
Université de Montréal
2014-2021
Institute for Research in Immunology and Cancer
2014-2015
Abstract Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood tissues. Clinically, it can present with hypercholesterolemia xanthomas, often causing to be misdiagnosed as familial (FH). The diagnosis sitosterolemia easily confirmed distinguished from FH sterol profile genetic investigations. Here, we report sibship 2 sisters initially FH. This case illustrates importance considering conditions, such...
Chronic granulomatous disease should be considered in adults of any age the presence refractory and/or atypical or fulminant pulmonary infections. This case new large deletions NCF1 was presented with mulch pneumonitis without a significant history