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Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Overview of attention for article published in Italian Journal of Pediatrics, September 2013
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

Mentioned by

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4 X users
wikipedia
1 Wikipedia page

Citations

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10 Dimensions

Readers on

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23 Mendeley
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Title
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
Published in
Italian Journal of Pediatrics, September 2013
DOI 10.1186/1824-7288-39-58
Pubmed ID
Authors

Gianpaolo De Filippo, Domenico Rendina, Vincenzo Rocco, Teresa Esposito, Fernando Gianfrancesco, Pasquale Strazzullo

Abstract

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdiagnosed.When there is reasonable evidence to suspect that a patient suffers from IGS, a new and straightforward approach to diagnosis is mutational analysis of the appropriate genes. We report for the first time the case of a girl of Italian ancestry with IGS genetically confirmed by the detection of a homozygous missense mutation in the AMN gene (c.208-2 A > G).

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 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 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 4%
Unknown 22 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 5 22%
Researcher 3 13%
Student > Bachelor 2 9%
Professor 2 9%
Student > Doctoral Student 1 4%
Other 4 17%
Unknown 6 26%
Readers by discipline Count As %
Medicine and Dentistry 9 39%
Nursing and Health Professions 2 9%
Agricultural and Biological Sciences 2 9%
Philosophy 1 4%
Pharmacology, Toxicology and Pharmaceutical Science 1 4%
Other 2 9%
Unknown 6 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 21 April 2018.
All research outputs
#6,754,036
of 25,374,647 outputs
Outputs from Italian Journal of Pediatrics
#235
of 1,059 outputs
Outputs of similar age
#55,318
of 213,537 outputs
Outputs of similar age from Italian Journal of Pediatrics
#2
of 18 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 1,059 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one has done well, scoring higher than 77% 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 213,537 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 18 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.