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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Overview of attention for article published in Journal of Inherited Metabolic Disease, November 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#5 of 1,575)
  • High Attention Score compared to outputs of the same age (94th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

Mentioned by

news
2 news outlets
twitter
24 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
103 Dimensions

Readers on

mendeley
114 Mendeley
Title
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Published in
Journal of Inherited Metabolic Disease, November 2016
DOI 10.1007/s10545-016-9999-9
Pubmed ID
Authors

Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R. Greenberg, Inga Harting, Georg F. Hoffmann, Daniela Karall, David M. Koeller, Michael B. Krawinkel, Jürgen G. Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker

Abstract

Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.

Twitter Demographics

The data shown below were collected from the profiles of 24 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 114 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 114 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 18 16%
Researcher 16 14%
Student > Ph. D. Student 14 12%
Student > Master 9 8%
Other 8 7%
Other 28 25%
Unknown 21 18%
Readers by discipline Count As %
Medicine and Dentistry 38 33%
Biochemistry, Genetics and Molecular Biology 20 18%
Nursing and Health Professions 10 9%
Agricultural and Biological Sciences 4 4%
Neuroscience 3 3%
Other 14 12%
Unknown 25 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 35. 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 11 April 2021.
All research outputs
#716,862
of 17,634,657 outputs
Outputs from Journal of Inherited Metabolic Disease
#5
of 1,575 outputs
Outputs of similar age
#22,598
of 394,815 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#1
of 9 outputs
Altmetric has tracked 17,634,657 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,575 research outputs from this source. They receive a mean Attention Score of 3.7. This one has done particularly well, scoring higher than 99% 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 394,815 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them