Results 91 to 100 of about 1,023,457 (221)
Frontiers in GeneticsGlycogen storage disease type VII (GSD-VII), or Tarui disease, is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the PFKM gene encoding the muscle isoform of phosphofructokinase (PFK), a key enzyme of the glycolytic ...
Mariapia Griffo +15 more
doaj +1 more source
Adss1–HDAC3 Interaction: A Novel Mechanism for Epigenetic Regulation of Metabolism in Adipose Tissue
iNew Medicine, EarlyView.ABSTRACT Obesity and its related metabolic disorders have emerged as global public health challenges with underlying mechanisms involving an imbalance between energy storage and expenditure in the adipose tissue. In recent years, with the deepening research on adipose tissue metabolism, the cross talk between metabolic enzymes and epigenetic regulation
Jiarui Zhao +3 more
wiley +1 more source
Myopathy in glycogen storage disease type IV: case report of a family
Бюллетень сибирской медициныAim. To study the clinical presentation and differential diagnosis of a rare hereditary disease glycogen storage disease type IV with progressive skeletal myopathy in a case report of a family.Materials and methods.
I. F. Fedoseeva +2 more
doaj +1 more source
Cellular prion protein dysfunction in a prototypical inherited metabolic myopathy. [PDF]
Cell Mol Life Sci, 2021 Boufroura FZ +7 more
europepmc +1 more source
The Endothelial CXCR Family in Vascular Health and Disease
iNew Medicine, EarlyView.ABSTRACT Endothelial cells (ECs) form the dynamic interface between blood and tissue, serving as key regulators of vascular homeostasis, inflammation, and repair. Among the molecular systems governing endothelial behavior, the C‐X‐C motif chemokine receptor (CXCR) family—originally characterized in immunology for its roles in leukocyte trafficking and ...
Zhiming Wu +4 more
wiley +1 more source
2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report
JIMD ReportsMultiple acyl‐CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late‐onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute,
Astrid Høj +8 more
doaj +1 more source
Carnitne Palmitoyltransferase II Defciency, a Rare Cause of Rhabdomyolysis: A Case Report
Case Reports in Clinical Practice, 2019 Introduction: Muscle weakness and rhabdomyolysis have a wide range of differential diagnosis. In many situations, they are induced by seizure, trauma, drugs, and toxins. They could also be due to inflammatory or metabolic myopathies.
Parisa Farshchi +3 more
doaj +1 more source
SARS-CoV-2 may unravel metabolic myopathy mistaken for myasthenia. [PDF]
Rev Esp Geriatr Gerontol, 2021 Finsterer J, Maeztu C.
europepmc +1 more source
JPGN Reports, EarlyView.Abstract Pediatric intestinal pseudo‐obstruction (PIPO) represents a severe gut motility disorder leading to digestive complications with high morbidity and mortality. Neonates and young children present symptoms mimicking intestinal occlusion, leading to surgery and long‐term feeding support.
Leonor Belfond +6 more
wiley +1 more source
History of study on metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 The developmental history of metabolic myopathy is reviewed both chronologically and from different classifications. Searching the specific biomarkers of different metabolic myopathies, and specific diagnostic and therapeutic measures targeting these ...
Jian YIN +4 more
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