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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2014
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2 X users

Citations

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41 Dimensions

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61 Mendeley
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Title
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Published in
Orphanet Journal of Rare Diseases, April 2014
DOI 10.1186/1750-1172-9-59
Pubmed ID
Authors

Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho

Abstract

With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling.

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X Demographics

The data shown below were collected from the profiles of 2 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 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 2%
Unknown 60 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 20%
Researcher 12 20%
Student > Bachelor 7 11%
Student > Master 7 11%
Other 5 8%
Other 5 8%
Unknown 13 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 20 33%
Medicine and Dentistry 11 18%
Agricultural and Biological Sciences 7 11%
Computer Science 2 3%
Nursing and Health Professions 2 3%
Other 7 11%
Unknown 12 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 28 April 2014.
All research outputs
#17,285,036
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,051
of 3,105 outputs
Outputs of similar age
#145,842
of 241,811 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#36
of 44 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
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 is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
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 241,811 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.