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Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Overview of attention for article published in Orphanet Journal of Rare Diseases, August 2012
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  • Good Attention Score compared to outputs of the same age (67th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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1 X user
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1 Wikipedia page

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47 Mendeley
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Title
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Published in
Orphanet Journal of Rare Diseases, August 2012
DOI 10.1186/1750-1172-7-56
Pubmed ID
Authors

Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle

Abstract

Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor Deficiency (IFD). IGS and IFD differ in that IGS usually presents with proteinuria, which is not observed in IFD. The genetic heterogeneity and numerous differential diagnoses make clinical assessment difficult.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user 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 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 46 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 13%
Student > Bachelor 5 11%
Other 5 11%
Student > Ph. D. Student 5 11%
Student > Postgraduate 5 11%
Other 12 26%
Unknown 9 19%
Readers by discipline Count As %
Medicine and Dentistry 13 28%
Biochemistry, Genetics and Molecular Biology 11 23%
Agricultural and Biological Sciences 8 17%
Veterinary Science and Veterinary Medicine 2 4%
Nursing and Health Professions 1 2%
Other 2 4%
Unknown 10 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 27 November 2020.
All research outputs
#7,960,512
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,134
of 3,105 outputs
Outputs of similar age
#58,205
of 187,814 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#16
of 29 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
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 has gotten more attention than average, scoring higher than 61% 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 187,814 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 67% of its contemporaries.
We're also able to compare this research output to 29 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.