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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, March 2013
|
| DOI | 10.1186/1750-1172-8-46 |
| Pubmed ID | |
| Abstract |
Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of reports of rare, attenuated forms of CHS exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and peripheral neuropathy, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction. |
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 % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 3% |
| Unknown | 37 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 16% |
| Student > Doctoral Student | 4 | 11% |
| Student > Master | 4 | 11% |
| Student > Postgraduate | 3 | 8% |
| Other | 3 | 8% |
| Other | 6 | 16% |
| Unknown | 12 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 21% |
| Biochemistry, Genetics and Molecular Biology | 4 | 11% |
| Nursing and Health Professions | 3 | 8% |
| Agricultural and Biological Sciences | 2 | 5% |
| Psychology | 2 | 5% |
| Other | 7 | 18% |
| Unknown | 12 | 32% |
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 22 March 2013.
All research outputs
#18,333,600
of 22,703,044 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,124
of 2,600 outputs
Outputs of similar age
#149,920
of 197,454 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 38 outputs
Altmetric has tracked 22,703,044 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 2,600 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. 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 197,454 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 38 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.