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Consensus clinical management guidelines for Niemann-Pick disease type C

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2018
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (78th percentile)

Mentioned by

twitter
13 tweeters
facebook
2 Facebook pages

Citations

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88 Dimensions

Readers on

mendeley
177 Mendeley
citeulike
1 CiteULike
Title
Consensus clinical management guidelines for Niemann-Pick disease type C
Published in
Orphanet Journal of Rare Diseases, April 2018
DOI 10.1186/s13023-018-0785-7
Pubmed ID
Authors

Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson

Abstract

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy.NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

Twitter Demographics

The data shown below were collected from the profiles of 13 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 177 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 177 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 24 14%
Student > Bachelor 24 14%
Student > Ph. D. Student 22 12%
Researcher 18 10%
Other 15 8%
Other 35 20%
Unknown 39 22%
Readers by discipline Count As %
Medicine and Dentistry 56 32%
Biochemistry, Genetics and Molecular Biology 24 14%
Neuroscience 11 6%
Pharmacology, Toxicology and Pharmaceutical Science 8 5%
Agricultural and Biological Sciences 5 3%
Other 31 18%
Unknown 42 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 28 February 2019.
All research outputs
#2,431,465
of 15,922,938 outputs
Outputs from Orphanet Journal of Rare Diseases
#293
of 1,698 outputs
Outputs of similar age
#61,504
of 281,284 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 1 outputs
Altmetric has tracked 15,922,938 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,698 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done well, scoring higher than 82% 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 281,284 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 78% of its contemporaries.
We're also able to compare this research output to 1 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