"Glycogen Storage Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
| Descriptor ID |
D006008
|
| MeSH Number(s) |
C16.320.565.202.449 C18.452.648.202.449
|
| Concept/Terms |
Glycogen Storage Disease- Glycogen Storage Disease
- Disease, Glycogen Storage
- Diseases, Glycogen Storage
- Glycogen Storage Diseases
- Storage Disease, Glycogen
- Storage Diseases, Glycogen
- Glycogenosis
- Glycogenoses
|
Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease".
This graph shows the total number of publications written about "Glycogen Storage Disease" by people in this website by year, and whether "Glycogen Storage Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 |
| 2005 | 0 | 1 | 1 |
| 2009 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2017 | 1 | 0 | 1 |
| 2021 | 0 | 2 | 2 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Glycogen Storage Disease" by people in Profiles.
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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 03; 138(3):107525.
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Ground-glass hepatocellular inclusions are associated with polypharmacy. Ann Diagn Pathol. 2021 Jun; 52:151740.
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Pulmonary growth abnormalities as etiologies for pediatric pulmonary hypertension. Pediatr Pulmonol. 2021 03; 56(3):678-685.
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Asp263 missense variants perturb the active site of human phosphoglucomutase 1. FEBS J. 2017 03; 284(6):937-947.
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Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. J Pediatr Endocrinol Metab. 2017 Feb 01; 30(2):247-251.
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Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency. J Mol Biol. 2016 Apr 24; 428(8):1493-505.
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A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 01; 24(23):6801-10.
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Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency. J Biol Chem. 2014 Nov 14; 289(46):32010-32019.
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Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med. 2013 Feb; 15(2):106-14.
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Animal models of glycogen storage disorders. Prog Mol Biol Transl Sci. 2011; 100:369-88.