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Case report: is low α-Gal enzyme activity suffcient to establish the diagnosis of Fabry disease?

Overview of attention for article published in Jornal Brasileiro de Nefrologia, January 2017
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Title
Case report: is low α-Gal enzyme activity suffcient to establish the diagnosis of Fabry disease?
Published in
Jornal Brasileiro de Nefrologia, January 2017
DOI 10.5935/0101-2800.20170057
Pubmed ID
Authors

Gilson Biagini, Ana Clara Simões Flórido Almeida, Tammy Vernalha Rocha Almeida, Cassiano Augusto Braga Silva, Bruna Fernanda de Castro, Tais Cristina Reche, Ana Cláudia Dabinski, Fellype Carvalho Barreto

Abstract

Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease. Thus, clinical symptoms that prompted Fabry disease investigation could not be attributable to Fabry disease and therefore enzyme replacement therapy was not indicated.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 33%
Unspecified 1 8%
Lecturer 1 8%
Student > Master 1 8%
Researcher 1 8%
Other 1 8%
Unknown 3 25%
Readers by discipline Count As %
Medicine and Dentistry 3 25%
Chemistry 2 17%
Agricultural and Biological Sciences 1 8%
Unspecified 1 8%
Neuroscience 1 8%
Other 0 0%
Unknown 4 33%

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 19 October 2017.
All research outputs
#11,191,847
of 14,113,807 outputs
Outputs from Jornal Brasileiro de Nefrologia
#48
of 57 outputs
Outputs of similar age
#233,554
of 317,317 outputs
Outputs of similar age from Jornal Brasileiro de Nefrologia
#1
of 1 outputs
Altmetric has tracked 14,113,807 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 57 research outputs from this source. They receive a mean Attention Score of 2.3. This one is in the 45th percentile – i.e., 45% of its peers scored the same or lower than it.
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