ALLMedicine™ Glycogen Storage Diseases Center
Research & Reviews 137 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823249
The Journal of Clinical Endocrinology and Metabolism; Kahali B, Chen Y et. al.
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034
Orphanet Journal of Rare Diseases; Beyzaei Z, Geramizadeh B et. al.
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...
https://doi.org/10.1080/14737175.2020.1825943
Expert Review of Neurotherapeutics; Angelini C, Marozzo R et. al.
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...
https://doi.org/10.1016/j.anndiagpath.2020.151604
Annals of Diagnostic Pathology; Bamisi OD, Alese MO
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549605
Molecular Genetics & Genomic Medicine REFERENCES; Liang Y, Du C et. al.
Aug 10th, 2020 - Glycogen storage disease (GSD) is a relatively rare inborn metabolic disorder, our study aims to investigate the genotypic and clinical feature of hepatic GSDs in China. The clinical and genotypic data of 49 patients with hepatic GSDs were collect...
Guidelines 1 results
https://www.acmg.net/PDFLibrary/Diagnosis%20and%20Management%20of%20Glycogen%20Stored%20Diseases%20type%20VI%20and%20IX%20a%20practice%20resource%20of%20ACMG.pdf
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.
Clinicaltrials.gov 139 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823249
The Journal of Clinical Endocrinology and Metabolism; Kahali B, Chen Y et. al.
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034
Orphanet Journal of Rare Diseases; Beyzaei Z, Geramizadeh B et. al.
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...
https://doi.org/10.1080/14737175.2020.1825943
Expert Review of Neurotherapeutics; Angelini C, Marozzo R et. al.
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...
https://doi.org/10.1016/j.anndiagpath.2020.151604
Annals of Diagnostic Pathology; Bamisi OD, Alese MO
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549605
Molecular Genetics & Genomic Medicine REFERENCES; Liang Y, Du C et. al.
Aug 10th, 2020 - Glycogen storage disease (GSD) is a relatively rare inborn metabolic disorder, our study aims to investigate the genotypic and clinical feature of hepatic GSDs in China. The clinical and genotypic data of 49 patients with hepatic GSDs were collect...