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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Case report: is low α-Gal enzyme activity sufficient 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. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 14 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 5 | 36% |
| Lecturer | 1 | 7% |
| Student > Doctoral Student | 1 | 7% |
| Student > Master | 1 | 7% |
| Researcher | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 4 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 29% |
| Chemistry | 2 | 14% |
| Agricultural and Biological Sciences | 1 | 7% |
| Neuroscience | 1 | 7% |
| Unknown | 6 | 43% |
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
#20,663,600
of 25,382,440 outputs
Outputs from Jornal Brasileiro de Nefrologia
#267
of 365 outputs
Outputs of similar age
#320,228
of 421,709 outputs
Outputs of similar age from Jornal Brasileiro de Nefrologia
#13
of 24 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 365 research outputs from this source. They receive a mean Attention Score of 2.5. This one is in the 16th percentile – i.e., 16% 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 421,709 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.