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Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Overview of attention for article published in BMC Medical Genetics, July 2016
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2 tweeters

Citations

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33 Mendeley
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Title
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
Published in
BMC Medical Genetics, July 2016
DOI 10.1186/s12881-016-0309-z
Pubmed ID
Authors

Daniel Oder, Dorothee Vergho, Georg Ertl, Christoph Wanner, Peter Nordbeck

Abstract

X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype due to random allele shutdown. However, clinical evidence is scarce and potential additional effects in female gene carriers, which might account for specific clinical characteristics such as less severe chronic kidney disease, are yet unknown. This article reports on a 45 year old female patient carrying the two alpha-galactosidase A gene mutations c.416A > G, p.N139S in exon 3 and c.708G > C, p.W236C in exon 5, but still showing only mild organ manifestations. This current case highlights the importance of careful clinical characterization in patients with Fabry disease, who may show additional rare constellations and, therefore, are in need of personalized medicine. The impact of potential additional protective effects exceeding the presence of a non-pathogenic GLA allele in female gene carriers requires further investigation.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 18%
Student > Master 5 15%
Student > Bachelor 5 15%
Student > Ph. D. Student 3 9%
Librarian 1 3%
Other 7 21%
Unknown 6 18%
Readers by discipline Count As %
Medicine and Dentistry 14 42%
Biochemistry, Genetics and Molecular Biology 5 15%
Psychology 2 6%
Agricultural and Biological Sciences 2 6%
Unspecified 1 3%
Other 2 6%
Unknown 7 21%

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 16 May 2017.
All research outputs
#7,671,170
of 10,263,476 outputs
Outputs from BMC Medical Genetics
#399
of 659 outputs
Outputs of similar age
#170,411
of 264,846 outputs
Outputs of similar age from BMC Medical Genetics
#7
of 14 outputs
Altmetric has tracked 10,263,476 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 659 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 33rd percentile – i.e., 33% 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 264,846 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.