| Title |
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, September 2012
|
| DOI | 10.1186/1750-1172-7-69 |
| Pubmed ID | |
| Authors |
Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann |
| Abstract |
Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assembly factor 1, were reported in SDH-defective infantile leukoencephalopathy. Our goal was to identify SDHAF1 mutations in further patients and to delineate the clinical phenotype. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 21% |
| Researcher | 4 | 14% |
| Student > Doctoral Student | 2 | 7% |
| Student > Bachelor | 2 | 7% |
| Student > Postgraduate | 2 | 7% |
| Other | 3 | 10% |
| Unknown | 10 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 10 | 34% |
| Neuroscience | 3 | 10% |
| Agricultural and Biological Sciences | 2 | 7% |
| Medicine and Dentistry | 1 | 3% |
| Veterinary Science and Veterinary Medicine | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 12 | 41% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 25 February 2021.
All research outputs
#6,374,203
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#817
of 3,105 outputs
Outputs of similar age
#46,201
of 188,916 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#15
of 35 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 73% of its peers.
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 188,916 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 75% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.