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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...
Uloženo v:
| Vydáno v: | J Pediatr Neurosci |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Medknow Publications & Media Pvt Ltd
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5437798/ https://ncbi.nlm.nih.gov/pubmed/28553389 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.205623 |
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