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Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Overview of attention for article published in Neurology: Clinical Practice, December 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 (88th percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

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22 X users
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4 Facebook pages

Citations

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130 Dimensions

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147 Mendeley
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Title
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Published in
Neurology: Clinical Practice, December 2017
DOI 10.1212/cpj.0000000000000399
Pubmed ID
Authors

Marc C Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans-Hermann Klünemann, Philippe Latour, Charles M Lourenço, Daniel S Ory, Alasdair Parker, Miguel Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt

Abstract

Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified. This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.

X Demographics

X Demographics

The data shown below were collected from the profiles of 22 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 147 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 147 100%

Demographic breakdown

Readers by professional status Count As %
Other 20 14%
Student > Ph. D. Student 18 12%
Student > Bachelor 15 10%
Researcher 10 7%
Student > Master 9 6%
Other 24 16%
Unknown 51 35%
Readers by discipline Count As %
Medicine and Dentistry 35 24%
Biochemistry, Genetics and Molecular Biology 24 16%
Neuroscience 6 4%
Agricultural and Biological Sciences 6 4%
Psychology 2 1%
Other 8 5%
Unknown 66 45%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. 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 25 January 2023.
All research outputs
#2,496,022
of 25,604,262 outputs
Outputs from Neurology: Clinical Practice
#269
of 1,308 outputs
Outputs of similar age
#53,252
of 446,361 outputs
Outputs of similar age from Neurology: Clinical Practice
#4
of 17 outputs
Altmetric has tracked 25,604,262 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 1,308 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.3. This one has done well, scoring higher than 79% 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 446,361 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 88% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.