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X Demographics
Mendeley readers
Attention Score in Context
| 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. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| India | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Sweden | 1 | 3% |
| Unknown | 34 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 23% |
| Student > Ph. D. Student | 4 | 11% |
| Student > Bachelor | 3 | 9% |
| Professor | 2 | 6% |
| Unspecified | 2 | 6% |
| Other | 4 | 11% |
| Unknown | 12 | 34% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 17% |
| Biochemistry, Genetics and Molecular Biology | 4 | 11% |
| Neuroscience | 3 | 9% |
| Unspecified | 2 | 6% |
| Social Sciences | 2 | 6% |
| Other | 6 | 17% |
| Unknown | 12 | 34% |
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
#13,475,442
of 22,880,230 outputs
Outputs from BMC Pediatrics
#1,660
of 3,012 outputs
Outputs of similar age
#190,063
of 354,317 outputs
Outputs of similar age from BMC Pediatrics
#25
of 50 outputs
Altmetric has tracked 22,880,230 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,012 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 42nd percentile – i.e., 42% 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 354,317 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 50 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.