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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2012
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Title
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Published in
Orphanet Journal of Rare Diseases, June 2012
DOI 10.1186/1750-1172-7-35
Pubmed ID
Authors

Andreas Herzog, Ralf Hartung, Arnold J J Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck, Eugen Mengel

Abstract

Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of acid alpha-glucosidase (GAA, acid maltase, EC 3.2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness of skeletal muscle throughout the clinical spectrum. In addition, the classic infantile form is characterised by hypertrophic cardiomyopathy.

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X Demographics

The data shown below were collected from the profile of 1 X user 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 86 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 86 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 19 22%
Student > Bachelor 10 12%
Other 9 10%
Student > Ph. D. Student 9 10%
Student > Master 8 9%
Other 14 16%
Unknown 17 20%
Readers by discipline Count As %
Medicine and Dentistry 29 34%
Biochemistry, Genetics and Molecular Biology 16 19%
Agricultural and Biological Sciences 11 13%
Nursing and Health Professions 3 3%
Chemistry 2 2%
Other 7 8%
Unknown 18 21%
Attention Score in Context

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 17 August 2012.
All research outputs
#14,728,447
of 22,668,244 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,684
of 2,594 outputs
Outputs of similar age
#103,132
of 166,843 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#13
of 15 outputs
Altmetric has tracked 22,668,244 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,594 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 31st percentile – i.e., 31% 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 166,843 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 15 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.