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Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2013
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Title
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Published in
Orphanet Journal of Rare Diseases, September 2013
DOI 10.1186/1750-1172-8-151
Pubmed ID
Authors

Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen

Abstract

Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1.

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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 58 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Unknown 57 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 19 33%
Researcher 10 17%
Student > Master 6 10%
Student > Postgraduate 4 7%
Student > Bachelor 4 7%
Other 6 10%
Unknown 9 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 16 28%
Biochemistry, Genetics and Molecular Biology 15 26%
Medicine and Dentistry 7 12%
Engineering 3 5%
Chemistry 3 5%
Other 4 7%
Unknown 10 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 08 October 2013.
All research outputs
#14,783,688
of 25,374,647 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,492
of 3,105 outputs
Outputs of similar age
#113,087
of 215,408 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 51 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% 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 has gotten more attention than average, scoring higher than 50% 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 215,408 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 51 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.