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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, August 2016
|
| DOI | 10.1186/s13023-016-0493-0 |
| Pubmed ID | |
| Authors |
Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann, Johannes Häberle |
| Abstract |
Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS). Data of 63 patients were collected (27 patients with ASS deficiency, 23 patients with OTC deficiency, and 12 patients with CPS1 deficiency, one patient definite diagnosis not documented). The majority of patients (43/63, 68 %) had an initial ammonia concentration exceeding 500 μmol/L (normal < 100), of which most (26/43, 60.5 %) were also encephalopathic and were treated with hemodialysis. In patients surviving the initial crisis, recurrence of hyperammonemic events within the first 1.5 years of life occurred frequently (mean 3.6 events, range 0-20). Of all patients, 16 (25.4 %) died during or immediately after the neonatal period. We observed in this cohort of neonatal onset UCD patients a high rate of initial life-threatening hyperammonemia and a high risk of recurrence of severe hyperammonemic crises. These corresponded to a high mortality rate during the entire study period (30.2 %) despite the fact that patients were treated in leading European metabolic centers. This underlines the need to critically re-evaluate the current treatment strategies in these patients. |
X Demographics
The data shown below were collected from the profiles of 2 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 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 52 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 19% |
| Student > Bachelor | 8 | 15% |
| Other | 7 | 13% |
| Student > Postgraduate | 4 | 8% |
| Student > Doctoral Student | 2 | 4% |
| Other | 6 | 12% |
| Unknown | 15 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 21 | 40% |
| Nursing and Health Professions | 5 | 10% |
| Biochemistry, Genetics and Molecular Biology | 4 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
| Agricultural and Biological Sciences | 2 | 4% |
| Other | 3 | 6% |
| Unknown | 15 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 November 2016.
All research outputs
#16,596,200
of 25,394,764 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,920
of 3,110 outputs
Outputs of similar age
#220,027
of 355,239 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#27
of 43 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,110 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 36th percentile – i.e., 36% 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 355,239 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.