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Mendeley readers
Attention Score in Context
| Title |
Fabry disease in infancy and early childhood: a systematic literature review
|
|---|---|
| Published in |
Genetics in Medicine, September 2014
|
| DOI | 10.1038/gim.2014.120 |
| Pubmed ID | |
| Authors |
Dawn A. Laney, Dawn S. Peck, Andrea M. Atherton, Linda P. Manwaring, Katherine M. Christensen, Suma P. Shankar, Dorothy K. Grange, William R. Wilcox, Robert J. Hopkin |
| Abstract |
Purpose:Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood.Methods:A systematic retrospective analysis of PubMed indexed, peer-reviewed publications and case reports in the pediatric Fabry population was performed to review symptoms in patients reported before 5 years of age.Results:The most frequently reported symptom in all age groups under 5 years was acroparesthesias/neuropathic pain, reported in 9 children, ranging in age from 2.0-4.0 years. Also notable is the frequency of gastrointestinal issues reported in 6 children aged 1.0-4.1 years of age.Conclusion:This article finds clear evidence that symptoms can occur in early childhood, before age 5 years. Given early presenting symptoms and the ability to monitor these disease hallmarks, a timely referral to a medical geneticist or other specialty clinician experienced in managing children with Fabry disease is strongly indicated.Genet Med advance online publication 18 September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.120. |
X Demographics
The data shown below were collected from the profiles of 2 X users 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 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 92 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Austria | 1 | 1% |
| Unknown | 91 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 12% |
| Student > Bachelor | 11 | 12% |
| Student > Master | 9 | 10% |
| Student > Doctoral Student | 8 | 9% |
| Other | 8 | 9% |
| Other | 22 | 24% |
| Unknown | 23 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 35 | 38% |
| Biochemistry, Genetics and Molecular Biology | 9 | 10% |
| Agricultural and Biological Sciences | 8 | 9% |
| Social Sciences | 3 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 3% |
| Other | 9 | 10% |
| Unknown | 25 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 30 November 2020.
All research outputs
#7,356,550
of 25,374,917 outputs
Outputs from Genetics in Medicine
#1,870
of 2,943 outputs
Outputs of similar age
#71,801
of 260,160 outputs
Outputs of similar age from Genetics in Medicine
#22
of 33 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 2,943 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one is in the 35th percentile – i.e., 35% 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 260,160 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.