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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2013
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  • Good Attention Score compared to outputs of the same age (70th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

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6 X users
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4 Facebook pages

Citations

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18 Dimensions

Readers on

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65 Mendeley
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Title
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
Published in
Orphanet Journal of Rare Diseases, June 2013
DOI 10.1186/1750-1172-8-92
Pubmed ID
Authors

Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez, Olga Alonso-Luengo

Abstract

Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility. The aim of this study was to evaluate the clinical pattern in female carriers of MPS II and to determine whether clinical symptoms were associated with the X-chromosome inactivation (XCI) pattern and age.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Spain 1 2%
United States 1 2%
Unknown 62 95%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 14%
Student > Bachelor 9 14%
Researcher 6 9%
Other 6 9%
Student > Doctoral Student 5 8%
Other 15 23%
Unknown 15 23%
Readers by discipline Count As %
Medicine and Dentistry 19 29%
Biochemistry, Genetics and Molecular Biology 12 18%
Agricultural and Biological Sciences 3 5%
Computer Science 2 3%
Psychology 2 3%
Other 9 14%
Unknown 18 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 27 June 2013.
All research outputs
#6,392,606
of 22,712,476 outputs
Outputs from Orphanet Journal of Rare Diseases
#867
of 2,602 outputs
Outputs of similar age
#54,542
of 196,319 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 32 outputs
Altmetric has tracked 22,712,476 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 2,602 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 64% 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 196,319 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.