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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2011
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (79th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

patent
2 patents
facebook
1 Facebook page

Citations

dimensions_citation
67 Dimensions

Readers on

mendeley
51 Mendeley
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2 CiteULike
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Title
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Published in
Orphanet Journal of Rare Diseases, January 2011
DOI 10.1186/1750-1172-6-46
Pubmed ID
Authors

Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta

Abstract

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal.

Mendeley readers

The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Korea, Republic of 1 2%
Canada 1 2%
Unknown 49 96%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 8 16%
Other 7 14%
Student > Master 6 12%
Researcher 4 8%
Librarian 3 6%
Other 11 22%
Unknown 12 24%
Readers by discipline Count As %
Medicine and Dentistry 18 35%
Nursing and Health Professions 6 12%
Agricultural and Biological Sciences 4 8%
Biochemistry, Genetics and Molecular Biology 3 6%
Sports and Recreations 3 6%
Other 5 10%
Unknown 12 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 27 June 2019.
All research outputs
#3,414,032
of 17,361,274 outputs
Outputs from Orphanet Journal of Rare Diseases
#419
of 1,839 outputs
Outputs of similar age
#33,071
of 166,126 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 42 outputs
Altmetric has tracked 17,361,274 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,839 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one has done well, scoring higher than 77% 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 166,126 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 79% of its contemporaries.
We're also able to compare this research output to 42 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 92% of its contemporaries.