Results 21 to 30 of about 401 (83)

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng   +5 more
wiley   +1 more source

Human genetic defects of sphingolipid synthesis

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot   +2 more
wiley   +1 more source

Serum Lipidome and Metabolome Alterations in Obese Patients Undergoing Targeted Diet and Exercise Interventions: A Marker of Thyroid Function Recovery?

open access: yesInternational Journal of Endocrinology, Volume 2025, Issue 1, 2025.
Purpose: Dietary and exercise interventions have the potential to modify thyroid hormone levels in individuals with obesity. This study investigates the specific mechanisms through which these interventions influence thyroid function, employing a multiomics approach.
Changxu Zhou   +8 more
wiley   +1 more source

Allergic inflammation triggers dyslipidemia via IgG signalling

open access: yesAllergy, Volume 79, Issue 10, Page 2680-2699, October 2024.
Allergic inflammation induces a unique lipid signature in circulation that is characterized by triglyceride changes. Blood changes in triglyceride levels and composition during allergic inflammation are driven by IgG signalling. IgG‐mediated allergic inflammation regulates lipid metabolism, which may contribute to atherosclerosis and, ultimately, to ...
Nieves Fernández‐Gallego   +24 more
wiley   +1 more source

Tumor necrosis factor and interleukin-1 induce expression of the verocytotoxin receptor globotriaosylceramide on human endothelial cells: Implications for the pathogenesis of the hemolytic uremic syndrome

open access: yes, 1992
The epidemic form of the hemolytic uremic syndrome (HUS), beginning with an acute gastroenteritis, has been associated with a verocytotoxin-producing Escherichia coli infection.
Kar, N.C.A.J. van de   +3 more
core  

EHA2024 Hybrid Congress

open access: yes
HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Human Metabolome Reference Database in a Biracial Cohort across the Adult Lifespan. [PDF]

open access: yesMetabolites, 2023
Tian Q   +9 more
europepmc   +1 more source

Age and sex shape plasma lipid associations to skeletal muscle mitochondrial respiration and H<sub>2</sub>O<sub>2</sub> emission. [PDF]

open access: yesGeroscience
Carlini NA   +10 more
europepmc   +1 more source

Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis. [PDF]

open access: yesBMC Nephrol
Kato H   +9 more
europepmc   +1 more source

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