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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Overview of attention for article published in Genetics in Medicine, August 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 (89th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

Mentioned by

news
2 news outlets
twitter
2 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
71 Dimensions

Readers on

mendeley
129 Mendeley
Title
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Published in
Genetics in Medicine, August 2017
DOI 10.1038/gim.2017.101
Pubmed ID
Authors

Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley, C Ronald Scott

Abstract

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.Genetics in Medicine advance online publication, 3 August 2017; doi:10.1038/gim.2017.101.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 129 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 129 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 19 15%
Researcher 15 12%
Student > Master 12 9%
Other 11 9%
Student > Ph. D. Student 9 7%
Other 22 17%
Unknown 41 32%
Readers by discipline Count As %
Medicine and Dentistry 28 22%
Biochemistry, Genetics and Molecular Biology 26 20%
Pharmacology, Toxicology and Pharmaceutical Science 7 5%
Agricultural and Biological Sciences 3 2%
Nursing and Health Professions 3 2%
Other 13 10%
Unknown 49 38%

Attention Score in Context

This research output has an Altmetric Attention Score of 21. 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 26 April 2019.
All research outputs
#890,593
of 14,723,618 outputs
Outputs from Genetics in Medicine
#390
of 2,025 outputs
Outputs of similar age
#27,628
of 270,418 outputs
Outputs of similar age from Genetics in Medicine
#15
of 49 outputs
Altmetric has tracked 14,723,618 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,025 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.4. This one has done well, scoring higher than 80% 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 270,418 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 89% of its contemporaries.
We're also able to compare this research output to 49 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 69% of its contemporaries.