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Am J Physiol Heart Circ Physiol
January 2025
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Farber disease (FD) is an ultrarare, autosomal-recessive, lysosomal storage disorder attributed to gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues. Classical FD patients typically manifest symptoms including lipogranulomatosis, respiratory complications, and neurological deficits, often leading to mortality during infancy.
View Article and Find Full Text PDFbioRxiv
January 2025
Department of Biology, Johns Hopkins University, Baltimore, United States.
Lipoproteins are essential for lipid transport in all bilaterians. A single Apolipoprotein B (ApoB) molecule is the inseparable structural scaffold of each ApoB-containing lipoprotein (B-lps), which are responsible for transporting lipids to peripheral tissues. The cellular mechanisms that regulate ApoB and B-lp production, secretion, transport, and degradation remain to be fully defined.
View Article and Find Full Text PDFMed Sci (Paris)
November 2024
Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.
S Afr Fam Pract (2004)
September 2024
Department of Family Medicine, Faculty of Health Sciences, University of the Free State, Bloemfontein.
Background: Metabolic syndrome (MetS) is a collection of risk factors, including hypertension, high fasting blood glucose, high fasting triglyceride and low high-density lipoprotein (HDL) cholesterol levels that may increase the risk for cardiovascular disease and type 2 diabetes. The study aimed to determine the prevalence of MetS among adults attending a Free State district hospital's outpatient department.
Methods: A cross-sectional study included a consecutive sample of consenting patients 18 years and older from 18 October 2021 to 19 November 2021.
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