The effect of portacaval transposition on carbohydrate metabolism: Experimental and clinical observations [PDF]
, 1965 An investigation was conducted of the influence of portacaval transposition upon carbohydrate metabolism in 45 dogs. In 17 dogs, hepatic glycogen content was measured before and from 45 to 75 days after transposition.
Faris, TD +6 more
core
Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B. [PDF]
, 2011 Sanfilippo syndrome type B (MPS IIIB) is characterized by profound mental retardation in childhood, dementia and death in late adolescence; it is caused by deficiency of α-N-acetylglucosaminidase and resulting lysosomal storage of heparan sulfate.
Neufeld, Elizabeth F +2 more
core +3 more sources
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]
, 2014 McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs +23 more
core +3 more sources
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a [PDF]
, 1999 Maria Veiga‐da‐Cunha +8 more
openalex +1 more source
One special question to start with: can HIF/NFkB be a target in inflammation? [PDF]
, 2015 Hypoxia and Inflammation are strictly interconnected with important consequences at clinical and therapeutic level. While cell and tissue damage due to acute hypoxia mostly leads to cell necrosis, in chronic hypoxia, cells that are located closer to ...
CARNEVALE, ILARIA +8 more
core +1 more source
European Eating Disorders Review, EarlyView.ABSTRACT Objective Disturbances of glucose homoeostasis are claimed to act as both a consequence and maintaining factor in eating disorders (EDs). This study explored glucose trends and their association with real‐time food intake and self‐report eating psychopathology in a sample of patients with anorexia nervosa (AN) and binge‐eating disorder (BED ...
Marianna Rania +8 more
wiley +1 more source
Hepatic stress associated with pathologies characterized by disturbed glucose production
Cell Stress, 2019 The liver is an organ with many facets, including a role in energy production and metabolic balance, detoxification and extraordinary capacity of regeneration. Hepatic glucose production plays a crucial role in the maintenance of normal glucose levels in
Monika Gjorgjieva +2 more
doaj +1 more source
Equine Veterinary Journal, EarlyView.Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka +4 more
wiley +1 more source