| Title |
Generalized arterial calcification of infancy: two siblings with prolonged survival
|
|---|---|
| Published in |
European Journal of Pediatrics, November 2005
|
| DOI | 10.1007/s00431-005-0035-6 |
| Pubmed ID | |
| Authors |
Giovanni Ciana, Antonella Trappan, Bruno Bembi, Alessandra Benettoni, Giampaolo Maso, Floriana Zennaro, Nico Ruf, Dirk Schnabel, Frank Rutsch |
| Abstract |
In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima lead to arterial stenoses. Most affected patients present with untreatable arterial hypertension and die within the first months of life. The disease has recently been linked to mutations in ENPP1. We report two siblings with prolonged survival, both of whom carry the compound heterozygous ENPP1 mutations c.913C>A and c.1164+2T>A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed. |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 5% |
| United States | 1 | 5% |
| Australia | 1 | 5% |
| Unknown | 19 | 86% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 23% |
| Unspecified | 1 | 5% |
| Lecturer > Senior Lecturer | 1 | 5% |
| Lecturer | 1 | 5% |
| Student > Doctoral Student | 1 | 5% |
| Other | 6 | 27% |
| Unknown | 7 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 36% |
| Agricultural and Biological Sciences | 3 | 14% |
| Biochemistry, Genetics and Molecular Biology | 2 | 9% |
| Unspecified | 1 | 5% |
| Unknown | 8 | 36% |
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 14 May 2013.
All research outputs
#7,454,427
of 22,789,566 outputs
Outputs from European Journal of Pediatrics
#1,458
of 3,695 outputs
Outputs of similar age
#37,933
of 146,369 outputs
Outputs of similar age from European Journal of Pediatrics
#3
of 7 outputs
Altmetric has tracked 22,789,566 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,695 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 42nd percentile – i.e., 42% 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 146,369 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.