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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
|
|---|---|
| Published in |
BMC Neurology, November 2015
|
| DOI | 10.1186/s12883-015-0503-1 |
| Pubmed ID | |
| Authors |
Adnane Karkar, Abdelhamid Barakat, Amina Bakhchane, Houda Fettah, Ilham Slassi, Imen Dorboz, Odile Boespflug-Tanguy, Sellama Nadifi |
| Abstract |
X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter. In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7. Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 38 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 21% |
| Student > Ph. D. Student | 7 | 18% |
| Student > Bachelor | 6 | 16% |
| Student > Doctoral Student | 3 | 8% |
| Professor | 2 | 5% |
| Other | 6 | 16% |
| Unknown | 6 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 26% |
| Biochemistry, Genetics and Molecular Biology | 9 | 24% |
| Neuroscience | 4 | 11% |
| Agricultural and Biological Sciences | 1 | 3% |
| Psychology | 1 | 3% |
| Other | 5 | 13% |
| Unknown | 8 | 21% |
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 27 November 2015.
All research outputs
#15,351,145
of 22,834,308 outputs
Outputs from BMC Neurology
#1,482
of 2,436 outputs
Outputs of similar age
#226,601
of 386,751 outputs
Outputs of similar age from BMC Neurology
#36
of 57 outputs
Altmetric has tracked 22,834,308 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,436 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. 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 386,751 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one is in the 24th percentile – i.e., 24% of its contemporaries scored the same or lower than it.