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Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Overview of attention for article published in Genetics in Medicine, July 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

twitter
16 tweeters
facebook
3 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
20 Dimensions

Readers on

mendeley
47 Mendeley
Title
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Published in
Genetics in Medicine, July 2017
DOI 10.1038/gim.2017.84
Pubmed ID
Authors

Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf

Abstract

Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory scientists and geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.GENETICS in MEDICINE advance online publication, 6 July 2017; doi:10.1038/gim.2017.84.

Twitter Demographics

The data shown below were collected from the profiles of 16 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 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 47 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 15%
Student > Bachelor 7 15%
Student > Doctoral Student 5 11%
Student > Master 5 11%
Lecturer 3 6%
Other 10 21%
Unknown 10 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 21%
Medicine and Dentistry 9 19%
Agricultural and Biological Sciences 4 9%
Neuroscience 2 4%
Social Sciences 2 4%
Other 9 19%
Unknown 11 23%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 January 2021.
All research outputs
#1,669,636
of 17,549,474 outputs
Outputs from Genetics in Medicine
#706
of 2,348 outputs
Outputs of similar age
#32,198
of 221,088 outputs
Outputs of similar age from Genetics in Medicine
#11
of 34 outputs
Altmetric has tracked 17,549,474 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,348 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one has gotten more attention than average, scoring higher than 69% 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 221,088 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 85% of its contemporaries.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.