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Fabry disease

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2010
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

twitter
8 tweeters
facebook
4 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
521 Dimensions

Readers on

mendeley
446 Mendeley
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Title
Fabry disease
Published in
Orphanet Journal of Rare Diseases, January 2010
DOI 10.1186/1750-1172-5-30
Pubmed ID
Authors

Dominique P Germain

Abstract

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs, nephroprotection (angiotensin converting enzyme inhibitors and angiotensin receptors blockers) and antiarrhythmic agents, whereas dialysis or renal transplantation are available for patients experiencing end-stage renal failure. With age, progressive damage to vital organ systems develops and at some point, organs may start to fail in functioning. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population. While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones.

Twitter Demographics

The data shown below were collected from the profiles of 8 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 446 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 4 <1%
Portugal 2 <1%
Brazil 2 <1%
Costa Rica 1 <1%
Israel 1 <1%
India 1 <1%
Australia 1 <1%
United Kingdom 1 <1%
Ukraine 1 <1%
Other 4 <1%
Unknown 428 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 64 14%
Student > Bachelor 58 13%
Student > Ph. D. Student 56 13%
Researcher 55 12%
Other 45 10%
Other 95 21%
Unknown 73 16%
Readers by discipline Count As %
Medicine and Dentistry 164 37%
Agricultural and Biological Sciences 56 13%
Biochemistry, Genetics and Molecular Biology 52 12%
Nursing and Health Professions 14 3%
Psychology 13 3%
Other 56 13%
Unknown 91 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 01 April 2020.
All research outputs
#2,596,744
of 15,934,618 outputs
Outputs from Orphanet Journal of Rare Diseases
#313
of 1,701 outputs
Outputs of similar age
#20,333
of 128,430 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 14 outputs
Altmetric has tracked 15,934,618 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,701 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done well, scoring higher than 81% 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 128,430 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
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 done well, scoring higher than 78% of its contemporaries.