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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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Publicat a:Muscle Nerve
Autors principals: DEIK, ANDRES, SAUNDERS-PULLMAN, RACHEL
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Accés en línia: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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