↓ Skip to main content

Cystinosis: a review

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2016
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (87th percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

policy
1 policy source
twitter
9 X users
patent
1 patent
wikipedia
1 Wikipedia page

Citations

dimensions_citation
208 Dimensions

Readers on

mendeley
251 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Cystinosis: a review
Published in
Orphanet Journal of Rare Diseases, April 2016
DOI 10.1186/s13023-016-0426-y
Pubmed ID
Authors

Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel, Elena Levtchenko

Abstract

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.

X Demographics

X Demographics

The data shown below were collected from the profiles of 9 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 251 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Unknown 250 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 30 12%
Student > Bachelor 30 12%
Researcher 28 11%
Student > Master 21 8%
Other 20 8%
Other 37 15%
Unknown 85 34%
Readers by discipline Count As %
Medicine and Dentistry 67 27%
Biochemistry, Genetics and Molecular Biology 45 18%
Agricultural and Biological Sciences 15 6%
Pharmacology, Toxicology and Pharmaceutical Science 14 6%
Nursing and Health Professions 4 2%
Other 19 8%
Unknown 87 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. 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 07 March 2024.
All research outputs
#2,468,191
of 25,440,205 outputs
Outputs from Orphanet Journal of Rare Diseases
#305
of 3,119 outputs
Outputs of similar age
#38,713
of 313,443 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 52 outputs
Altmetric has tracked 25,440,205 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,119 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done particularly well, scoring higher than 90% 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 313,443 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 52 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 94% of its contemporaries.