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Late‐Onset Tay‐Sachs Disease in an Irish Family
BACKGROUND: Late‐onset Tay‐Sachs disease (LOTS) is an autosomal‐recessive lysosomal storage disease caused by deficient β‐hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non‐Jewish population. CASES: We report an Irish family expanding the LOTS phenotype (ataxia,...
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| Publicat a: | Mov Disord Clin Pract |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley & Sons, Inc.
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7780940/ https://ncbi.nlm.nih.gov/pubmed/33426165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.13096 |
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