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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

Overview of attention for article published in PLoS ONE, February 2016
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Citations

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Title
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy
Published in
PLoS ONE, February 2016
DOI 10.1371/journal.pone.0148316
Pubmed ID
Authors

Bianca T. A. de Greef, Janneke G. J. Hoeijmakers, Emma E. Wolters, Hubertus J. M. Smeets, Arthur van den Wijngaard, Ingemar S. J. Merkies, Catharina G. Faber, Monique M. Gerrits

Abstract

Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy. Patients referred to our institute, who met the criteria for isolated small fiber neuropathy were tested for Fabry disease by measurement of alpha-Galactosidase A activity in blood, lysosomal globotriaosylsphingosine in urine and analysis on possible GLA gene mutations. 725 patients diagnosed with small fiber neuropathy were screened for Fabry disease. No skin abnormalities were seen except for redness of the hands or feet in 30.9% of the patients. Alfa-Galactosidase A activity was tested in all 725 patients and showed diminished activity in eight patients. Lysosomal globotriaosylsphingosine was examined in 509 patients and was normal in all tested individuals. Screening of GLA for mutations was performed for 440 patients, including those with diminished α-Galactosidase A activity. Thirteen patients showed a GLA gene variant. One likely pathogenic variant was found in a female patient. The diagnosis Fabry disease could not be confirmed over time in this patient. Eventually none of the patients were diagnosed with Fabry disease. In patients with isolated small fiber neuropathy, and no other signs compatible with Fabry disease, the diagnostic yield of testing for Fabry disease is extremely low. Testing for Fabry disease should be considered only in cases with additional characteristics, such as childhood onset, cardiovascular disease, renal failure, or typical skin lesions.

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Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
Unknown 34 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 26%
Student > Ph. D. Student 5 14%
Student > Bachelor 4 11%
Student > Postgraduate 3 9%
Professor > Associate Professor 3 9%
Other 7 20%
Unknown 4 11%
Readers by discipline Count As %
Medicine and Dentistry 11 31%
Biochemistry, Genetics and Molecular Biology 5 14%
Neuroscience 4 11%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Social Sciences 1 3%
Other 1 3%
Unknown 11 31%

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 04 September 2019.
All research outputs
#10,051,221
of 15,780,427 outputs
Outputs from PLoS ONE
#96,195
of 156,669 outputs
Outputs of similar age
#184,195
of 347,119 outputs
Outputs of similar age from PLoS ONE
#3,417
of 5,288 outputs
Altmetric has tracked 15,780,427 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 156,669 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.0. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
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We're also able to compare this research output to 5,288 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.