ALLMedicine™ Glycogen Storage Diseases Center

Apr 12th, 2021 - Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of th...

Nov 24th, 2020 - Glycogen storage diseases are rare. Increased glycogen in the liver results in increased attenuation. Investigate the association and function of a noncoding region associated with liver attenuation but not histologic nonalcoholic fatty liver dise...

Oct 15th, 2020 - Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are di...

Sep 17th, 2020 - Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxid...

Sep 2nd, 2020 - The visualization of glycogen deposits in cells and tissues is important for studying glycogen metabolism as well as diagnosis of glycogen storage diseases. Evidence suggests that the demonstration of glycogen can better be enhanced by factors suc...

Jan 18th, 2019 - Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene.

Apr 12th, 2021 - Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single-center study of th...

Nov 24th, 2020 - Glycogen storage diseases are rare. Increased glycogen in the liver results in increased attenuation. Investigate the association and function of a noncoding region associated with liver attenuation but not histologic nonalcoholic fatty liver dise...

Oct 15th, 2020 - Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are di...

Sep 17th, 2020 - Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxid...

Sep 2nd, 2020 - The visualization of glycogen deposits in cells and tissues is important for studying glycogen metabolism as well as diagnosis of glycogen storage diseases. Evidence suggests that the demonstration of glycogen can better be enhanced by factors suc...