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GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

Overview of attention for article published in BMC Pediatrics, July 2016
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

Mentioned by

twitter
2 tweeters

Citations

dimensions_citation
16 Dimensions

Readers on

mendeley
27 Mendeley
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Title
GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
Published in
BMC Pediatrics, July 2016
DOI 10.1186/s12887-016-0626-6
Pubmed ID
Authors

Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah

Abstract

GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. Horizontal nystagmus and cherry red spot was detected during ophthalmic examination. MRI of brain revealed putaminal hyperintensity and thalamic hypointensity with some unmyelinated white matter in T2/T1 weighted images. Initially he was suspected having Tay-Sachs disease and finally diagnosed as GM2 gangliosidosis, AB variant due to truncated protein caused by nonsense mutation c.472 G > T (p.E158X) in GM2Agene. Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Sweden 1 4%
Unknown 26 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 26%
Student > Bachelor 3 11%
Professor 2 7%
Student > Ph. D. Student 2 7%
Other 1 4%
Other 3 11%
Unknown 9 33%
Readers by discipline Count As %
Medicine and Dentistry 5 19%
Biochemistry, Genetics and Molecular Biology 4 15%
Neuroscience 3 11%
Computer Science 1 4%
Agricultural and Biological Sciences 1 4%
Other 4 15%
Unknown 9 33%

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 13 July 2016.
All research outputs
#3,473,792
of 8,072,037 outputs
Outputs from BMC Pediatrics
#513
of 1,088 outputs
Outputs of similar age
#103,838
of 258,647 outputs
Outputs of similar age from BMC Pediatrics
#19
of 49 outputs
Altmetric has tracked 8,072,037 research outputs across all sources so far. This one has received more attention than most of these and is in the 55th percentile.
So far Altmetric has tracked 1,088 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.2. This one has gotten more attention than average, scoring higher than 51% 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 258,647 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 58% of its contemporaries.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.