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Mendeley readers
Attention Score in Context
| Title |
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, September 2007
|
| DOI | 10.1186/1752-1947-1-98 |
| Pubmed ID | |
| Authors |
Oivind J. Kanavin, Berit Woldseth, Egil Jellum, Bjorn Tvedt, Brage S. Andresen, Petter Stromme |
| Abstract |
2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. We report a four-year-old mentally retarded Somali boy with autism and a history of seizures, who was found to excrete increased amounts of 2-methylbutyryl glycine in the urine. The SBCAD gene was examined with sequence analysis. His development was assessed with psychometric testing before and after a trial with low protein diet. We found homozygosity for A > G changing the +3 position of intron 3 (c.303+3A > G) in the SBCAD gene. Psychometric testing showed moderate mental retardation and behavioral scores within the autistic spectrum. No beneficial effect was detected after 5 months with a low protein diet. This mutation was also found in two previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD. |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Denmark | 1 | 3% |
| Unknown | 33 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 15% |
| Student > Master | 5 | 15% |
| Student > Ph. D. Student | 5 | 15% |
| Professor | 3 | 9% |
| Researcher | 3 | 9% |
| Other | 7 | 21% |
| Unknown | 6 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 7 | 21% |
| Medicine and Dentistry | 6 | 18% |
| Psychology | 4 | 12% |
| Nursing and Health Professions | 2 | 6% |
| Biochemistry, Genetics and Molecular Biology | 2 | 6% |
| Other | 5 | 15% |
| Unknown | 8 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 08 April 2011.
All research outputs
#7,461,241
of 22,811,321 outputs
Outputs from Journal of Medical Case Reports
#631
of 3,916 outputs
Outputs of similar age
#24,995
of 70,759 outputs
Outputs of similar age from Journal of Medical Case Reports
#5
of 21 outputs
Altmetric has tracked 22,811,321 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,916 research outputs from this source. They receive a mean Attention Score of 3.9. This one has done well, scoring higher than 80% 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 70,759 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.