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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

Overview of attention for article published in Orphanet Journal of Rare Diseases, March 2013
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Title
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Published in
Orphanet Journal of Rare Diseases, March 2013
DOI 10.1186/1750-1172-8-43
Pubmed ID
Authors

Catharina ML Touw, G Peter A Smit, Klary E Niezen-Koning, Conny Bosgraaf-de Boer, Albert Gerding, Dirk-Jan Reijngoud, Terry GJ Derks

Abstract

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with variant ACADM genotypes that had never been identified before in clinically ascertained patients. In vitro residual MCAD enzyme activity has been found to facilitate risk-stratification. In this study we integrated results of in vitro (residual MCAD enzyme activities) and in vivo (clinical fasting tolerance tests, and phenylpropionic acid loading tests) tests in this subgroup of newborns, defining the consequences of variant ACADM genotypes.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Germany 1 3%
Unknown 37 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 26%
Student > Bachelor 7 18%
Student > Master 6 15%
Student > Ph. D. Student 5 13%
Other 3 8%
Other 3 8%
Unknown 5 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 26%
Medicine and Dentistry 10 26%
Agricultural and Biological Sciences 9 23%
Immunology and Microbiology 3 8%
Social Sciences 1 3%
Other 2 5%
Unknown 4 10%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 20 March 2013.
All research outputs
#17,286,645
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,051
of 3,105 outputs
Outputs of similar age
#135,158
of 210,240 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#30
of 46 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one is in the 26th percentile – i.e., 26% 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 210,240 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.