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Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease

BACKGROUND: Late-Onset Tay-Sachs (LOTS) disease is a rare, progressive neurological condition that can dramatically affect the life of these patients. The diagnosis of LOTS is easily missed because of the multifaced presentation of these patients, who can initially be assessed by neuromuscular or mo...

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Detalles Bibliográficos
Autores principales: Riboldi, Giulietta Maria, Lau, Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801838/
https://www.ncbi.nlm.nih.gov/pubmed/36618998
http://dx.doi.org/10.5334/tohm.726