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Rhizomelic chondrodysplasia punctata and cardiac pathology

Overview of attention for article published in Journal of Medical Genetics, April 2013
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (75th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

blogs
1 blog

Citations

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19 Dimensions

Readers on

mendeley
30 Mendeley
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Title
Rhizomelic chondrodysplasia punctata and cardiac pathology
Published in
Journal of Medical Genetics, April 2013
DOI 10.1136/jmedgenet-2013-101536
Pubmed ID
Authors

Irene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, Nico A Blom, Ronald J A Wanders, Hans R Waterham, Bwee Tien Poll-The

Abstract

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular membranes) are low due to a genetic defect in their biosynthesis. Cardiac muscle contains high concentrations of plasmalogens. Recently cardiac dysfunction was found in a mouse model for RCDP with undetectable plasmalogen levels in all tissues including the heart. This suggests the importance of plasmalogens in normal cardiac development and function. Congenital heart disease (CHD), however, has not been recognised as a major characteristic of RCDP.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 17%
Student > Ph. D. Student 4 13%
Researcher 3 10%
Professor 3 10%
Student > Postgraduate 3 10%
Other 10 33%
Unknown 2 7%
Readers by discipline Count As %
Medicine and Dentistry 10 33%
Biochemistry, Genetics and Molecular Biology 8 27%
Agricultural and Biological Sciences 4 13%
Psychology 1 3%
Sports and Recreations 1 3%
Other 1 3%
Unknown 5 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 09 April 2013.
All research outputs
#5,846,831
of 22,707,247 outputs
Outputs from Journal of Medical Genetics
#1,175
of 2,913 outputs
Outputs of similar age
#48,911
of 199,332 outputs
Outputs of similar age from Journal of Medical Genetics
#14
of 31 outputs
Altmetric has tracked 22,707,247 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 2,913 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has gotten more attention than average, scoring higher than 56% 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 199,332 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 75% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.