| Title |
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
|
|---|---|
| Published in |
Indian Journal of Pediatrics, January 2017
|
| DOI | 10.1007/s12098-016-2286-9 |
| Pubmed ID | |
| Authors |
Vykuntaraju K. Gowda, Varun M. Srinivasan, Naveen Benakappa, Asha Benakappa |
| Abstract |
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 3 | 18% |
| Other | 2 | 12% |
| Researcher | 2 | 12% |
| Lecturer | 1 | 6% |
| Professor | 1 | 6% |
| Other | 3 | 18% |
| Unknown | 5 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 29% |
| Agricultural and Biological Sciences | 2 | 12% |
| Biochemistry, Genetics and Molecular Biology | 2 | 12% |
| Neuroscience | 2 | 12% |
| Engineering | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 5 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 28 April 2017.
All research outputs
#15,457,417
of 22,968,808 outputs
Outputs from Indian Journal of Pediatrics
#939
of 1,548 outputs
Outputs of similar age
#256,859
of 420,285 outputs
Outputs of similar age from Indian Journal of Pediatrics
#10
of 14 outputs
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