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Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2016
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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 (88th percentile)

Mentioned by

news
1 news outlet
twitter
7 X users
facebook
1 Facebook page

Citations

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56 Dimensions

Readers on

mendeley
44 Mendeley
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Title
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Published in
Orphanet Journal of Rare Diseases, April 2016
DOI 10.1186/s13023-016-0419-x
Pubmed ID
Authors

Bertrand Degos, Yann Nadjar, Maria del Mar Amador, Foudil Lamari, Frédéric Sedel, Emmanuel Roze, Philippe Couvert, Fanny Mochel

Abstract

Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Diarrhea almost always developed within the first year of life. Cataract and school difficulties usually occurred between 5 and 15 years of age preceding by years the onset of motor or psychiatric symptoms. The median age at diagnosis was 24.5 years old. It appears critical to raise awareness about CTX among paediatricians in order to initiate treatment before irreversible damage occurs.

X Demographics

X Demographics

The data shown below were collected from the profiles of 7 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 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 44 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 10 23%
Other 5 11%
Student > Postgraduate 4 9%
Student > Ph. D. Student 4 9%
Student > Doctoral Student 3 7%
Other 5 11%
Unknown 13 30%
Readers by discipline Count As %
Medicine and Dentistry 15 34%
Biochemistry, Genetics and Molecular Biology 4 9%
Pharmacology, Toxicology and Pharmaceutical Science 3 7%
Neuroscience 3 7%
Psychology 2 5%
Other 3 7%
Unknown 14 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 02 August 2016.
All research outputs
#2,639,322
of 25,374,647 outputs
Outputs from Orphanet Journal of Rare Diseases
#339
of 3,105 outputs
Outputs of similar age
#39,711
of 297,145 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#5
of 50 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
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 done well, scoring higher than 89% 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 297,145 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 50 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.