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X Demographics
Mendeley readers
Attention Score in Context
| Title |
COG5-CDG: expanding the clinical spectrum
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, December 2012
|
| DOI | 10.1186/1750-1172-7-94 |
| Pubmed ID | |
| Authors |
Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs, Jaak Jaeken |
| Abstract |
The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first patient with COG5-CDG was recently described (Paesold-Burda et al. Hum Mol Genet 2009; 18:4350-6). Contrary to most other COG-CDG cases, the patient presented a mild/moderate phenotype, i.e. moderate psychomotor retardation with language delay, truncal ataxia and slight hypotonia. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Mexico | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 55 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 55 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 12 | 22% |
| Student > Bachelor | 9 | 16% |
| Student > Master | 7 | 13% |
| Researcher | 4 | 7% |
| Other | 3 | 5% |
| Other | 10 | 18% |
| Unknown | 10 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 36% |
| Agricultural and Biological Sciences | 7 | 13% |
| Biochemistry, Genetics and Molecular Biology | 5 | 9% |
| Neuroscience | 3 | 5% |
| Psychology | 3 | 5% |
| Other | 7 | 13% |
| Unknown | 10 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 December 2012.
All research outputs
#18,323,689
of 22,689,790 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,123
of 2,597 outputs
Outputs of similar age
#216,394
of 278,739 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#77
of 87 outputs
Altmetric has tracked 22,689,790 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,597 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 278,739 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 87 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.