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Wolcott-Rallison syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2010
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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 (83rd percentile)
  • Good Attention Score compared to outputs of the same age and source (73rd percentile)

Mentioned by

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3 X users
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3 patents
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2 Wikipedia pages

Citations

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163 Dimensions

Readers on

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177 Mendeley
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Title
Wolcott-Rallison syndrome
Published in
Orphanet Journal of Rare Diseases, November 2010
DOI 10.1186/1750-1172-5-29
Pubmed ID
Authors

Cécile Julier, Marc Nicolino

Abstract

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents. Typically, diabetes occurs before six months of age, and skeletal dysplasia is diagnosed within the first year or two of life. Other manifestations vary between patients in their nature and severity and include frequent episodes of acute liver failure, renal dysfunction, exocrine pancreas insufficiency, intellectual deficit, hypothyroidism, neutropenia and recurrent infections. Bone fractures may be frequent. WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3), also known as PKR-like endoplasmic reticulum kinase (PERK). PERK is an endoplasmic reticulum (ER) transmembrane protein, which plays a key role in translation control during the unfolded protein response. ER dysfunction is central to the disease processes. The disease variability appears to be independent of the nature of the EIF2AK3 mutations, with the possible exception of an older age at onset; other factors may include other genes, exposure to environmental factors and disease management. WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with skeletal dysplasia and/or episodes of acute liver failure. Molecular genetic testing confirms the diagnosis. Early diagnosis is recommended, in order to ensure rapid intervention for episodes of hepatic failure, which is the most life threatening complication. WRS should be differentiated from other forms of neonatal/early-onset insulin-dependent diabetes based on clinical presentation and genetic testing. Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation. Close therapeutic monitoring of diabetes and treatment with an insulin pump are recommended because of the risk of acute episodes of hypoglycaemia and ketoacidosis. Interventions under general anaesthesia increase the risk of acute aggravation, because of the toxicity of anaesthetics, and should be avoided. Prognosis is poor and most patients die at a young age. Intervention strategies targeting ER dysfunction provide hope for future therapy and prevention.

X Demographics

X Demographics

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Mendeley readers

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 %
United Kingdom 1 <1%
Peru 1 <1%
Slovakia 1 <1%
Canada 1 <1%
Unknown 173 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 24 14%
Student > Master 22 12%
Student > Bachelor 22 12%
Researcher 17 10%
Other 12 7%
Other 44 25%
Unknown 36 20%
Readers by discipline Count As %
Medicine and Dentistry 62 35%
Biochemistry, Genetics and Molecular Biology 28 16%
Agricultural and Biological Sciences 20 11%
Nursing and Health Professions 10 6%
Psychology 6 3%
Other 13 7%
Unknown 38 21%
Attention Score in Context

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 14 April 2022.
All research outputs
#3,773,550
of 23,538,320 outputs
Outputs from Orphanet Journal of Rare Diseases
#507
of 2,712 outputs
Outputs of similar age
#16,667
of 101,924 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#5
of 15 outputs
Altmetric has tracked 23,538,320 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,712 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.8. This one has done well, scoring higher than 81% 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 101,924 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 83% of its contemporaries.
We're also able to compare this research output to 15 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 73% of its contemporaries.