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Dysarthria and Stutter as Presenting Symptoms of Late‐Onset Tay‐Sachs Disease in Three Siblings
Late‐onset Tay‐Sachs disease (LOTS) is a rare autosomal‐recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta‐hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness i...
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| Publicado no: | Mov Disord Clin Pract |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6178690/ https://ncbi.nlm.nih.gov/pubmed/30363497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12194 |
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