 Congenital Disorders of Glycosylation
"Congenital Disorders of Glycosylation" 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 genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
| Descriptor ID |
D018981
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| MeSH Number(s) |
C16.320.565.202.125 C18.452.648.202.125
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| Concept/Terms |
Congenital Disorders of Glycosylation- Congenital Disorders of Glycosylation
- Glycoprotein Syndrome, Carbohydrate-Deficient
- Carbohydrate-Deficient Glycoprotein Syndrome
- Carbohydrate Deficient Glycoprotein Syndrome
- Carbohydrate-Deficient Glycoprotein Syndromes
- Syndrome, Carbohydrate-Deficient Glycoprotein
- Syndromes, Carbohydrate-Deficient Glycoprotein
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Below are MeSH descriptors whose meaning is more general than "Congenital Disorders of Glycosylation".
Below are MeSH descriptors whose meaning is more specific than "Congenital Disorders of Glycosylation".
This graph shows the total number of publications written about "Congenital Disorders of Glycosylation" by people in this website by year, and whether "Congenital Disorders of Glycosylation" 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 |
|---|
| 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Congenital Disorders of Glycosylation" by people in Profiles.
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Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. Mol Genet Metab. 2023 11; 140(3):107688.
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Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesqui?re B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 12; 90(6):887-900.
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Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348.
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Collins AE, Ferriero DM. The expanding spectrum of congenital disorders of glycosylation. J Pediatr. 2005 Dec; 147(6):728-30.
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