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 |
|---|
| 2005 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 4 | 0 | 4 |
| 2021 | 1 | 0 | 1 |
| 2022 | 2 | 1 | 3 |
| 2023 | 1 | 0 | 1 |
| 2024 | 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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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 Aug; 142(4):108513.
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509.
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
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NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology. Cells. 2022 03 29; 11(7).
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Tracing the NGLY1 footprints: insights from Drosophila. J Biochem. 2022 Feb 21; 171(2):153-160.
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
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A conserved role for AMP-activated protein kinase in NGLY1 deficiency. PLoS Genet. 2020 12; 16(12):e1009258.
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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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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 06; 22(6):1102-1107.