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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2013
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3 X users

Citations

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94 Mendeley
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Title
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Published in
Orphanet Journal of Rare Diseases, July 2013
DOI 10.1186/1750-1172-8-102
Pubmed ID
Authors

Maria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, Elisa Leão-Teles, Esmeralda Martins, Helena Santos, Maria Amor Bueno, Carmen Delgado-Pecellín, Daisy E Castiñeiras, José A Cocho, Judit García-Villoria, Antonia Ribes, José M Fraga, Hugo Rocha

Abstract

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 94 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 1%
Unknown 93 99%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 19 20%
Student > Master 15 16%
Researcher 7 7%
Student > Ph. D. Student 7 7%
Student > Doctoral Student 6 6%
Other 16 17%
Unknown 24 26%
Readers by discipline Count As %
Medicine and Dentistry 19 20%
Biochemistry, Genetics and Molecular Biology 18 19%
Agricultural and Biological Sciences 12 13%
Nursing and Health Professions 5 5%
Chemistry 4 4%
Other 10 11%
Unknown 26 28%
Attention Score in Context

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 29 March 2015.
All research outputs
#16,721,208
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,955
of 3,105 outputs
Outputs of similar age
#126,004
of 206,378 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#27
of 42 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,105 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 34th percentile – i.e., 34% 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 206,378 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 42 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.