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
|
| MeSH Number(s) |
C16.320.565.202.125 C18.452.648.202.125
|
| 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
|
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2014 | 0 | 1 | 1 |
| 2019 | 2 | 0 | 2 |
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Below are the most recent publications written about "Congenital Disorders of Glycosylation" by people in Profiles.
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Blommaert E, P?anne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. Proc Natl Acad Sci U S A. 2019 05 14; 116(20):9865-9870.
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Chang IJ, Byers HM, Ng BG, Merritt JL, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019 03; 42(2):325-332.
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Cherepanova NA, Shrimal S, Gilmore R. Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. J Cell Biol. 2014 Aug 18; 206(4):525-39.
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Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15; 22(22):4638-45.