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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
|
|---|---|
| Published in |
American Journal of Human Genetics, June 2015
|
| DOI | 10.1016/j.ajhg.2015.05.009 |
| Pubmed ID | |
| Authors |
Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch |
| Abstract |
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever. |
X Demographics
The data shown below were collected from the profiles of 9 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 | 2 | 22% |
| Japan | 1 | 11% |
| Unknown | 6 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 56% |
| Scientists | 2 | 22% |
| Practitioners (doctors, other healthcare professionals) | 1 | 11% |
| Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
The data shown below were compiled from readership statistics for 84 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 2 | 2% |
| United Kingdom | 1 | 1% |
| France | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 79 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 17 | 20% |
| Researcher | 16 | 19% |
| Student > Master | 8 | 10% |
| Other | 7 | 8% |
| Lecturer | 5 | 6% |
| Other | 18 | 21% |
| Unknown | 13 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 25 | 30% |
| Medicine and Dentistry | 20 | 24% |
| Agricultural and Biological Sciences | 15 | 18% |
| Immunology and Microbiology | 2 | 2% |
| Neuroscience | 2 | 2% |
| Other | 6 | 7% |
| Unknown | 14 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 82. 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
#515,718
of 25,371,288 outputs
Outputs from American Journal of Human Genetics
#226
of 5,878 outputs
Outputs of similar age
#5,680
of 280,836 outputs
Outputs of similar age from American Journal of Human Genetics
#5
of 50 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,878 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.3. This one has done particularly well, scoring higher than 96% 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 280,836 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 50 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.