You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, April 2016
|
| DOI | 10.1186/s13023-016-0433-z |
| Pubmed ID | |
| Authors |
Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer, Angela M. Kaindl |
| Abstract |
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity. |
X Demographics
The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 20% |
| United States | 1 | 20% |
| Unknown | 3 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 60% |
| Science communicators (journalists, bloggers, editors) | 1 | 20% |
| Scientists | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 27% |
| Other | 2 | 13% |
| Lecturer | 1 | 7% |
| Professor | 1 | 7% |
| Student > Doctoral Student | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 4 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 2 | 13% |
| Nursing and Health Professions | 2 | 13% |
| Arts and Humanities | 1 | 7% |
| Psychology | 1 | 7% |
| Sports and Recreations | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 7 | 47% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 05 May 2016.
All research outputs
#12,894,140
of 22,867,327 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,244
of 2,626 outputs
Outputs of similar age
#136,590
of 299,065 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#20
of 30 outputs
Altmetric has tracked 22,867,327 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,626 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 51% 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 299,065 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 53% of its contemporaries.
We're also able to compare this research output to 30 others from the same source and published within six weeks on either side of this one. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.