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Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosple...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437798/ https://www.ncbi.nlm.nih.gov/pubmed/28553389 http://dx.doi.org/10.4103/1817-1745.205623 |