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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Overview of attention for article published in Orphanet Journal of Rare Diseases, August 2012
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Title
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Published in
Orphanet Journal of Rare Diseases, August 2012
DOI 10.1186/1750-1172-7-51
Pubmed ID
Authors

Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg, Bwee Tien Poll-The

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user 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 458 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 2 <1%
Portugal 1 <1%
South Africa 1 <1%
Japan 1 <1%
United States 1 <1%
Unknown 452 99%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 97 21%
Student > Ph. D. Student 49 11%
Researcher 48 10%
Student > Master 40 9%
Other 31 7%
Other 74 16%
Unknown 119 26%
Readers by discipline Count As %
Medicine and Dentistry 137 30%
Biochemistry, Genetics and Molecular Biology 79 17%
Agricultural and Biological Sciences 42 9%
Neuroscience 26 6%
Pharmacology, Toxicology and Pharmaceutical Science 9 2%
Other 36 8%
Unknown 129 28%
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 11 December 2014.
All research outputs
#17,286,379
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,051
of 3,105 outputs
Outputs of similar age
#123,829
of 185,771 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#21
of 27 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
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 185,771 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 24th percentile – i.e., 24% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 22nd percentile – i.e., 22% of its contemporaries scored the same or lower than it.