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High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2014
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Title
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
Published in
Orphanet Journal of Rare Diseases, September 2014
DOI 10.1186/s13023-014-0133-5
Pubmed ID
Authors

Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg, Bwee Tien Poll-The

Abstract

Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic primary adrenal insufficiency. It is important to detect impaired adrenal function because it has treatment implications. Primary adrenal insufficiency was found in 7/24 patients examined, with 4/7 being asymptomatic. Systematic evaluation of adrenal function, through a Synacthen test, should be included in the clinical management of these patients.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 15%
Researcher 5 15%
Student > Bachelor 3 9%
Professor 3 9%
Other 3 9%
Other 5 15%
Unknown 10 29%
Readers by discipline Count As %
Medicine and Dentistry 11 32%
Biochemistry, Genetics and Molecular Biology 3 9%
Unspecified 2 6%
Neuroscience 2 6%
Computer Science 1 3%
Other 5 15%
Unknown 10 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 03 September 2014.
All research outputs
#20,236,620
of 22,763,032 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,455
of 2,611 outputs
Outputs of similar age
#198,838
of 237,378 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#43
of 44 outputs
Altmetric has tracked 22,763,032 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
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