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A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

Overview of attention for article published in BMC Cardiovascular Disorders, June 2012
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Title
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
Published in
BMC Cardiovascular Disorders, June 2012
DOI 10.1186/1471-2261-12-39
Pubmed ID
Authors

Antonio Pisani, Massimo Imbriaco, Carmela Zizzo, Giuseppe Albeggiani, Paolo Colomba, Riccardo Alessandro, Francesco Iemolo, Giovanni Duro

Abstract

Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan.

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X Demographics

The data shown below were collected from the profiles of 5 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 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 4%
India 1 2%
Ukraine 1 2%
Italy 1 2%
Unknown 43 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 21%
Student > Master 7 15%
Student > Bachelor 5 10%
Student > Postgraduate 5 10%
Student > Doctoral Student 4 8%
Other 11 23%
Unknown 6 13%
Readers by discipline Count As %
Medicine and Dentistry 22 46%
Biochemistry, Genetics and Molecular Biology 9 19%
Agricultural and Biological Sciences 4 8%
Mathematics 1 2%
Nursing and Health Professions 1 2%
Other 2 4%
Unknown 9 19%
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 15 October 2019.
All research outputs
#12,856,520
of 22,668,244 outputs
Outputs from BMC Cardiovascular Disorders
#498
of 1,589 outputs
Outputs of similar age
#89,396
of 166,794 outputs
Outputs of similar age from BMC Cardiovascular Disorders
#5
of 19 outputs
Altmetric has tracked 22,668,244 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 1,589 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 67% 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 166,794 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 19 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 73% of its contemporaries.