 Glycogen Storage Disease
"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
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| MeSH Number(s) |
C16.320.565.202.449 C18.452.648.202.449
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| 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
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2018 | 2 | 0 | 2 | | 2020 | 1 | 0 | 1 | | 2021 | 2 | 0 | 2 |
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Below are the most recent publications written about "Glycogen Storage Disease" by people in Profiles.
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Liptzin DR, Udoko MN, Pinder M, Weinman JP, Galambos C, Deterding RR. Pulmonary interstitial glycogenosis after the first year. Pediatr Pulmonol. 2021 09; 56(9):3056-3058.
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Kahali B, Chen Y, Feitosa MF, Bielak LF, O'Connell JR, Musani SK, Hegde Y, Chen Y, Stetson LC, Guo X, Fu YP, Smith AV, Ryan KA, Eiriksdottir G, Cohain AT, Allison M, Bakshi A, Bowden DW, Budoff MJ, Carr JJ, Carskadon S, Chen YI, Correa A, Crudup BF, Du X, Harris TB, Yang J, Kardia SLR, Launer LJ, Liu J, Mosley TH, Norris JM, Terry JG, Palanisamy N, Schadt EE, O'Donnell CJ, Yerges-Armstrong LM, Rotter JI, Wagenknecht LE, Handelman SK, Gudnason V, Province MA, Peyser PA, Halligan B, Palmer ND, Speliotes EK. A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction. J Clin Endocrinol Metab. 2021 01 23; 106(2):372-387.
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Galambos C, Wartchow E, Weinman JP, Abman SH. Pulmonary interstitial glycogenosis cells express mesenchymal stem cell markers. Eur Respir J. 2020 10; 56(4).
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Sard?n O, Torrent-Vernetta A, Rovira-Amigo S, Dishop MK, Ferreres JC, Navarro A, Corcuera P, Korta-Murua J, Pe?a PG, P?rez-Belmonte E, Villares A, Camats N, Fern?ndez-Cancio M, Carrascosa A, P?rez-Yarza EG, Moreno-Gald? A. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study. Pediatr Pulmonol. 2019 06; 54(6):837-846.
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Liptzin DR, Baker CD, Darst JR, Weinman JP, Dishop MK, Galambos C, Brinton JT, Deterding RR. Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course. Pediatr Pulmonol. 2018 12; 53(12):1651-1658.
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Weinman JP, White CJ, Liptzin DR, Deterding RR, Galambos C, Browne LP. High-resolution CT findings of pulmonary interstitial glycogenosis. Pediatr Radiol. 2018 08; 48(8):1066-1072.
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Siomos AK, Mitchell MB, Fonseca BM. Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. Cardiol Young. 2015 Mar; 25(3):594-6.
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Guin S, Pollard C, Ru Y, Ritterson Lew C, Duex JE, Dancik G, Owens C, Spencer A, Knight S, Holemon H, Gupta S, Hansel D, Hellerstein M, Lorkiewicz P, Lane AN, Fan TW, Theodorescu D. Role in tumor growth of a glycogen debranching enzyme lost in glycogen storage disease. J Natl Cancer Inst. 2014 Apr 03; 106(5).
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Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet. 1998 Apr; 102(4):423-9.
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