Results 151 to 160 of about 52,891 (241)

Energy Metabolism Under Stress: Late‐Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
Cardiac bioenergetic and metabolic perturbations in late‐stage Leigh syndrome. Whole‐body NDUFS4 loss severely impairs cardiac complex I activity and respiration, shifting reliance to complex II and reducing glycolytic, TCA, and amino acid‐derived energy‐generating substrates in the heart.
Karin Terburgh   +2 more
wiley   +1 more source

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis

open access: yesJIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT The objective of this study is to evaluate whether early enzyme replacement therapy (ERT) initiation is associated with a lower incidence of echocardiogram abnormalities and cardiac conduction abnormalities compared to later ERT initiation.
Jennifer L. Cohen   +6 more
wiley   +1 more source

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

open access: yesJIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐year‐old child with cblB disorder who developed acute cardiomyopathy (CM).
Dalia Said, Aisha Al Shamsi
wiley   +1 more source

4D Flow MRI Velocity and Turbulence Mapping in Mild Valvular Heart Disease

open access: yesJournal of Magnetic Resonance Imaging, Volume 63, Issue 1, Page 222-232, January 2026.
ABSTRACT Background Valvular heart disease (VHD) commonly leads to the development of turbulent blood flow. Turbulent kinetic energy (TKE), measured with 4D flow MRI, may be a complement to current metrics for early identification of VHD. Purpose To investigate TKE as a marker of VHD in relation to flow velocity and cardiovascular geometry.
Tamara Bianchessi   +7 more
wiley   +1 more source

Wnt Signaling Pathway: Biological Function, Diseases, and Therapeutic Interventions

open access: yesMedComm, Volume 7, Issue 1, January 2026.
The Wnt signaling pathway is essential for development and tissue homeostasis, while its dysregulation drives diverse diseases. This review systematically outlines its components, functions, regulators, and preclinical models, highlighting secreted frizzled‐related proteins (SFRPs) as context‐dependent, biphasic modulators.
Xiaoyu Jin   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy