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About 281 results

ALLMedicine™ Glycogen Storage Diseases Center

Research & Reviews  139 results

A generic emergency protocol for patients with inborn errors of metabolism causing fast...
https://doi.org/10.1002/jimd.12386
Journal of Inherited Metabolic Disease; Rossi A, Hoogeveen IJ et. al.

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...

A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects...
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...

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
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...

Diagnostic challenges in metabolic myopathies.
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...

Effects of various fixatives and temperature on the quality of glycogen demonstration i...
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...

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Guidelines  1 results

Diagnosis and management of glycogen storage diseases type VI and IX
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.

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Clinicaltrials.gov  141 results

A generic emergency protocol for patients with inborn errors of metabolism causing fast...
https://doi.org/10.1002/jimd.12386
Journal of Inherited Metabolic Disease; Rossi A, Hoogeveen IJ et. al.

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...

A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects...
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...

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
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...

Diagnostic challenges in metabolic myopathies.
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...

Effects of various fixatives and temperature on the quality of glycogen demonstration i...
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...

see more →