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Chaperone–Mediated Gene Therapy with Recombinant AAV-PPCA in a New Mouse Model of Type I Sialidosis

The lysosomal storage disease sialidosis is caused by a primary deficiency of the sialidase NEU1. Patients with type I sialidosis develop an attenuated, non-neuropathic form of the disease also named cherry red spot myoclonus syndrome, with symptoms arising during juvenile/ adult age. NEU1 requires...

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Main Authors: Bonten, Erik J., Yogalingam, Gouri, Hu, Huimin, Gomero, Elida, van de Vlekkert, Diantha, d’Azzo, Alessandra
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3794473/
https://ncbi.nlm.nih.gov/pubmed/23770387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.06.002
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