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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2013
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1 Google+ user

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63 Mendeley
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Title
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
Published in
Orphanet Journal of Rare Diseases, December 2013
DOI 10.1186/1750-1172-8-188
Pubmed ID
Authors

Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard, Shamima Rahman

Abstract

Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enzyme deficiencies can arise from a number of mechanisms, including defective maintenance or expression of mitochondrial DNA. Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to multiple RC deficiencies, known as the multiple mitochondrial dysfunctions syndrome.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 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 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 63 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 14%
Student > Master 9 14%
Student > Ph. D. Student 8 13%
Student > Bachelor 6 10%
Student > Postgraduate 5 8%
Other 16 25%
Unknown 10 16%
Readers by discipline Count As %
Medicine and Dentistry 18 29%
Biochemistry, Genetics and Molecular Biology 16 25%
Agricultural and Biological Sciences 5 8%
Neuroscience 2 3%
Nursing and Health Professions 2 3%
Other 7 11%
Unknown 13 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 17 December 2013.
All research outputs
#12,888,337
of 22,733,113 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,250
of 2,604 outputs
Outputs of similar age
#159,587
of 306,883 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#36
of 61 outputs
Altmetric has tracked 22,733,113 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,604 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 50% 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 306,883 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 61 others from the same source and published within six weeks on either side of this one. This one is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.