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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (86th percentile)
  • High Attention Score compared to outputs of the same age and source (86th percentile)

Mentioned by

blogs
1 blog
twitter
4 X users

Citations

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74 Dimensions

Readers on

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55 Mendeley
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Title
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Published in
Orphanet Journal of Rare Diseases, January 2013
DOI 10.1186/1750-1172-8-1
Pubmed ID
Authors

Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Bjørn Ivar Haukanes, Cecilie Bredrup, Gesche Neckelmann, Helge Boman, Per Morten Knappskog, Laurence A Bindoff

Abstract

Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropathy, epilepsy, relapsing encephalopathy, bilateral thalamic lesions, type 2 diabetes mellitus, cataract, pigmentary retinopathy and tremor.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

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 %
Netherlands 1 2%
Unknown 54 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 16%
Student > Bachelor 7 13%
Student > Ph. D. Student 5 9%
Student > Master 5 9%
Student > Doctoral Student 4 7%
Other 10 18%
Unknown 15 27%
Readers by discipline Count As %
Medicine and Dentistry 15 27%
Biochemistry, Genetics and Molecular Biology 8 15%
Agricultural and Biological Sciences 5 9%
Nursing and Health Professions 3 5%
Neuroscience 2 4%
Other 5 9%
Unknown 17 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 19 September 2021.
All research outputs
#3,256,010
of 22,691,736 outputs
Outputs from Orphanet Journal of Rare Diseases
#441
of 2,598 outputs
Outputs of similar age
#35,007
of 280,814 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#13
of 94 outputs
Altmetric has tracked 22,691,736 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,598 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done well, scoring higher than 82% 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 280,814 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 86% of its contemporaries.
We're also able to compare this research output to 94 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.