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About 261 results

ALLMedicine Glycogen Storage Diseases Center

Research & Reviews  129 results

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...

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
https://doi.org/10.1002/ana.25771
Annals of Neurology References; Echaniz-Laguna A, Lornage X et. al.

May 9th, 2020 - Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. In this study, we aimed to molecularly characterize the ...

Dietary lipids in glycogen storage disease type III: A systematic literature study, cas...
https://doi.org/10.1002/jimd.12224
Journal of Inherited Metabolic Disease REFERENCES; Rossi A, Hoogeveen IJ et. al.

Feb 17th, 2020 - A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid mani...

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.
https://doi.org/10.1017/cjn.2020.18
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques; Smith C, et. al.

Jan 28th, 2020 - Glycogen storage diseases (GSDs) result from the deficiency of enzymes involved in glycogen synthesis and breakdown into glucose. Mutations in the gene PHKA2 encoding phosphorylase kinase regulatory subunit alpha 2 have been linked to GSD type IXa...

Mitochondrial and Metabolic Myopathies.
https://doi.org/10.1212/CON.0000000000000805
Continuum (Minneapolis, Minn.); Cohen BH

Dec 3rd, 2019 - This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on ...

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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  131 results

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...

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
https://doi.org/10.1002/ana.25771
Annals of Neurology References; Echaniz-Laguna A, Lornage X et. al.

May 9th, 2020 - Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. In this study, we aimed to molecularly characterize the ...

Dietary lipids in glycogen storage disease type III: A systematic literature study, cas...
https://doi.org/10.1002/jimd.12224
Journal of Inherited Metabolic Disease REFERENCES; Rossi A, Hoogeveen IJ et. al.

Feb 17th, 2020 - A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid mani...

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.
https://doi.org/10.1017/cjn.2020.18
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques; Smith C, et. al.

Jan 28th, 2020 - Glycogen storage diseases (GSDs) result from the deficiency of enzymes involved in glycogen synthesis and breakdown into glucose. Mutations in the gene PHKA2 encoding phosphorylase kinase regulatory subunit alpha 2 have been linked to GSD type IXa...

Mitochondrial and Metabolic Myopathies.
https://doi.org/10.1212/CON.0000000000000805
Continuum (Minneapolis, Minn.); Cohen BH

Dec 3rd, 2019 - This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on ...

see more →