In the human body, glycogen is a branched polymer of glucose stored mainly in the liver and
the skeletal muscle that supplies glucose to the blood stream during fasting periods and to …

Information about normal hepatic glucose metabolism may help to understand pathogenic
mechanisms underlying obesity and diabetes mellitus. In addition, liver glucose metabolism …

Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain,
weakness, and/or swelling with release of myofiber contents into the bloodstream …

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

The normal function of the human myocardium requires the proper generation and utilization
of energy and relies on a series of complex metabolic processes to achieve this normal …

Background Congenital disorders of glycosylation are genetic syndromes that result in
impaired glycoprotein production. We evaluated patients who had a novel recessive …

Gait speed often referred as the sixth vital sign is the most powerful biomarker of mobility.
While a clinical setting allows the estimation of gait speed under controlled conditions that …

Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …

Skeletal muscle adapts to physiological demands by altering a number of programs of gene
expression, including those driving mitochondrial biogenesis, angiogenesis, and fiber …

Metabolic myopathies comprise a clinically and etiologically diverse group of disorders
caused by defects in cellular energy metabolism, including the breakdown of carbohydrates …