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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2014
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

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1 policy source
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4 X users
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1 patent
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1 Facebook page

Citations

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36 Dimensions

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76 Mendeley
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Title
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Published in
Orphanet Journal of Rare Diseases, November 2014
DOI 10.1186/s13023-014-0187-4
Pubmed ID
Authors

Elena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, Consuelo Pedrón-Giner, María Luz Couce, Juliana Serrano-Nieto, Guillem Pintos-Morell, Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, María Teresa García-Silva, Pilar Quijada-Fraile, Isidro Vitoria-Miñana, Jaime Dalmau, Rosa A Lama-More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García-Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz-Pons, Luis J Peña-Quintana, Inmaculada Vives-Piñera, Ana Moráis, Elena Balmaseda-Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez-Cerdá

Abstract

BackgroundAdvances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain.MethodsObservational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients with UCDs, treated in the metabolic diseases centers in Spain between February 2012 and February 2013, covering the entire Spanish population. Heterozygous mothers of patients with OTC deficiency were only included if they were on treatment due to being symptomatic or having biochemistry abnormalities.Results104 patients from 98 families were included. Ornithine transcarbamylase deficiency was the most frequent condition (64.4%) (61.2% female) followed by type 1 citrullinemia (21.1%) and argininosuccinic aciduria (9.6%). Only 13 patients (12.5%) were diagnosed in a pre-symptomatic state. 63% of the cases presented with type intoxication encephalopathy. The median ammonia level at onset was 298 ¿mol/L (169-615). The genotype of 75 patients is known, with 18 new mutations having been described. During the data collection period four patients died, three of them in the early days of life. The median current age is 9.96 years (5.29-18), with 25 patients over 18 years of age. Anthropometric data, expressed as median and z-score for the Spanish population is shown. 52.5% of the cases present neurological sequelae, which have been linked to the type of disease, neonatal onset, hepatic failure at diagnosis and ammonia values at diagnosis. 93 patients are following a protein restrictive diet, 0.84 g/kg/day (0.67-1.10), 50 are receiving essential amino acid supplements, 0.25 g/kg/day (0.20-0.45), 58 arginine, 156 mg/kg/day (109-305) and 45 citrulline, 150 mg/kg/day (105-199). 65 patients are being treated with drugs: 4 with sodium benzoate, 50 with sodium phenylbutyrate, 10 with both drugs and 1 with carglumic acid.ConclusionsStudies like this make it possible to analyze the frequency, natural history and clinical practices in the area of rare diseases, with the purpose of knowing the needs of the patients and thus planning their care.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Colombia 1 1%
Canada 1 1%
Unknown 74 97%

Demographic breakdown

Readers by professional status Count As %
Other 11 14%
Student > Master 11 14%
Student > Bachelor 9 12%
Researcher 9 12%
Professor > Associate Professor 5 7%
Other 11 14%
Unknown 20 26%
Readers by discipline Count As %
Medicine and Dentistry 28 37%
Biochemistry, Genetics and Molecular Biology 8 11%
Psychology 5 7%
Nursing and Health Professions 3 4%
Pharmacology, Toxicology and Pharmaceutical Science 3 4%
Other 7 9%
Unknown 22 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 10 March 2021.
All research outputs
#3,806,148
of 22,914,829 outputs
Outputs from Orphanet Journal of Rare Diseases
#502
of 2,630 outputs
Outputs of similar age
#54,712
of 361,840 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#12
of 98 outputs
Altmetric has tracked 22,914,829 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,630 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has done well, scoring higher than 80% 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 361,840 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 98 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.