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About 281 results

ALLMedicine™ Glycogen Storage Diseases Center

Research & Reviews  139 results

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
https://doi.org/10.1186/s13023-020-01573-8
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...

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage di...
https://doi.org/10.1002/mgg3.1444
Molecular Genetics & Genomic Medicine REFERENCES; Liang Y, Du C et. al.

Aug 7th, 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...

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal s...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236983
PloS One; Belfiore MP, Iacobellis F et. al.

May 19th, 2020 - Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifes...

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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

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
https://doi.org/10.1186/s13023-020-01573-8
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...

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage di...
https://doi.org/10.1002/mgg3.1444
Molecular Genetics & Genomic Medicine REFERENCES; Liang Y, Du C et. al.

Aug 7th, 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...

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal s...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236983
PloS One; Belfiore MP, Iacobellis F et. al.

May 19th, 2020 - Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifes...

see more →