Results 31 to 40 of about 74,859 (354)
Hepatology Communications, EarlyView., 2022 Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring +70 more
wiley +1 more source
Late Diagnosis of Fanconi-Bickel Syndrome
Journal of Inborn Errors of Metabolism and Screening, 2016 Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism.
Nirupama Gupta MD +3 more
doaj +1 more source
Patients with glycogen storage diseases undergoing anesthesia: a case series
BMC Anesthesiology, 2017 Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis,
Carmelina Gurrieri +3 more
doaj +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
Destabilization of mutated human PUS3 protein causes intellectual disability
Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022 The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin +17 more
wiley +1 more source
Glycogen storage disease type III: A novel Agl knockout mouse model [PDF]
, 2014 Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL.
Bordoni, Andreina +11 more
core +1 more source
Toward 3D‐Bioprinted Models of the Liver to Boost Drug Development
Macromolecular Bioscience, Volume 22, Issue 12, December 2022., 2022 During preclinical studies, bidimensional in vitro models and animal models are synergically exploited to forecast safety and efficacy. 3D‐bioprinting is exploited to produce complex in vitro models, able to mimic physiological and pathological conditions, thus aiming to overcome the conventional paradigm.
Giuseppe Guagliano +5 more
wiley +1 more source
Platelet glycogenolysis is important for energy production and function
Platelets, 2023 Although the presence of glycogen in platelets was established in the 1960s, its importance to specific functions (i.e., activation, secretion, aggregation, and clot contraction) remains unclear.
Kanakanagavalli Shravani Prakhya +9 more
doaj +1 more source
Glycogen and its metabolism: some new developments and old themes [PDF]
, 2012 Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of extensive investigation and much is known about its regulation by ...
Depaoli-Roach, Anna A. +3 more
core +1 more source
Frontiers in Neurology, 2022 BackgroundGlycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms.
Kun Huang +11 more
doaj +1 more source