| Title |
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
|
|---|---|
| Published in |
Indian Journal of Pediatrics, November 2017
|
| DOI | 10.1007/s12098-017-2471-5 |
| Pubmed ID | |
| Authors |
Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Maya Bhat, Naveen Benakappa |
| Abstract |
Biotin Thiamine responsive Basal Ganglia Disease (BTBGD) is a rare treatable autosomal recessive metabolic disorder caused by mutations in SLC19A3 gene. It usually presents with encephalopathy and dystonia; if not treated, can progress to quadriparesis and death. Two Indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Neuroimaging showed signal changes in basal ganglia and thalami. Genetic testing showed a homozygous missense substitution p.Gly23Val (c.68G > T) in exon 2 of the SLC19A3 gene. Thus to conclude, any child who presents with neuroregression, epilepsy and dystonia in the background of basal ganglia changes on neuroimaging, a possibility of biotin thiamine responsive basal ganglia disease should be considered. |
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 % |
|---|---|---|
| India | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 2 | 17% |
| Student > Master | 2 | 17% |
| Librarian | 1 | 8% |
| Student > Ph. D. Student | 1 | 8% |
| Student > Doctoral Student | 1 | 8% |
| Other | 2 | 17% |
| Unknown | 3 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 33% |
| Psychology | 1 | 8% |
| Nursing and Health Professions | 1 | 8% |
| Social Sciences | 1 | 8% |
| Neuroscience | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 4 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 22 January 2018.
All research outputs
#12,763,271
of 23,007,053 outputs
Outputs from Indian Journal of Pediatrics
#790
of 1,550 outputs
Outputs of similar age
#149,942
of 330,012 outputs
Outputs of similar age from Indian Journal of Pediatrics
#11
of 30 outputs
Altmetric has tracked 23,007,053 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,550 research outputs from this source. They receive a mean Attention Score of 3.1. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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We're also able to compare this research output to 30 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 63% of its contemporaries.