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Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

Overview of attention for article published in Molecular Genetics & Metabolism, November 2007
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#50 of 2,383)
  • High Attention Score compared to outputs of the same age (96th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
1 news outlet
policy
3 policy sources
twitter
7 X users

Citations

dimensions_citation
431 Dimensions

Readers on

mendeley
237 Mendeley
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Title
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
Published in
Molecular Genetics & Metabolism, November 2007
DOI 10.1016/j.ymgme.2007.09.013
Pubmed ID
Authors

William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin, Alberto Ortiz, Maryam Banikazemi, Ulla Feldt-Rasmussen, Katherine Sims, Stephen Waldek, Gregory M. Pastores, Philip Lee, Christine M. Eng, Laszlo Marodi, Kevin E. Stanford, Frank Breunig, Christoph Wanner, David G. Warnock, Roberta M. Lemay, Dominique P. Germain

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N=638), 62.5% had an eGFR <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. Proteinuria 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy.

X Demographics

X Demographics

The data shown below were collected from the profiles of 7 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 237 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 <1%
Ukraine 1 <1%
France 1 <1%
Denmark 1 <1%
United States 1 <1%
Unknown 231 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 36 15%
Student > Master 26 11%
Other 23 10%
Student > Bachelor 21 9%
Student > Ph. D. Student 19 8%
Other 37 16%
Unknown 75 32%
Readers by discipline Count As %
Medicine and Dentistry 88 37%
Biochemistry, Genetics and Molecular Biology 21 9%
Agricultural and Biological Sciences 14 6%
Neuroscience 6 3%
Nursing and Health Professions 5 2%
Other 27 11%
Unknown 76 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 21. 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 10 May 2023.
All research outputs
#1,735,194
of 25,373,627 outputs
Outputs from Molecular Genetics & Metabolism
#50
of 2,383 outputs
Outputs of similar age
#5,458
of 165,663 outputs
Outputs of similar age from Molecular Genetics & Metabolism
#1
of 26 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,383 research outputs from this source. They receive a mean Attention Score of 4.7. This one has done particularly well, scoring higher than 97% 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 165,663 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.