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ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE
INTRODUCTION: Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. METHODS: We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable...
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| Опубликовано в: : | Muscle Nerve |
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| Главные авторы: | , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4346308/ https://ncbi.nlm.nih.gov/pubmed/24327357 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.24146 |
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