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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2013
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  • Above-average Attention Score compared to outputs of the same age (55th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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4 tweeters

Citations

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8 Dimensions

Readers on

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35 Mendeley
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Title
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Published in
Orphanet Journal of Rare Diseases, October 2013
DOI 10.1186/1750-1172-8-159
Pubmed ID
Abstract

Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA; acid maltase), a key enzyme of the glycogen degradation pathway. To date, more than 326 different mutations in the GAA gene have been identified in patients with GSDII but the course of the disease is difficult to be predicted on the basis of molecular genetic changes. Studies on large informative families are advisable to better define how genetics and non genetics factors like exercise and diet may influence the clinical phenotype.

Twitter Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
Unknown 34 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 17%
Other 5 14%
Professor 5 14%
Researcher 5 14%
Student > Bachelor 4 11%
Other 8 23%
Unknown 2 6%
Readers by discipline Count As %
Medicine and Dentistry 9 26%
Biochemistry, Genetics and Molecular Biology 5 14%
Agricultural and Biological Sciences 5 14%
Sports and Recreations 4 11%
Neuroscience 3 9%
Other 5 14%
Unknown 4 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 10 October 2013.
All research outputs
#6,958,139
of 12,378,406 outputs
Outputs from Orphanet Journal of Rare Diseases
#761
of 1,338 outputs
Outputs of similar age
#71,990
of 166,361 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#28
of 40 outputs
Altmetric has tracked 12,378,406 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,338 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one is in the 39th percentile – i.e., 39% 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 166,361 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 55% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.