AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases, alacrima, and peripheral neuropathy. Here, we confirm...

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Detalles Bibliográficos
Autores principales: Zhu, Lei, Tan, Brandon, Dwight, Selina S., Beahm, Brendan, Wilsey, Matt, Crawford, Brett E., Schweighardt, Becky, Cook, Jennifer W., Wechsler, Thomas, Mueller, William F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593239/
https://www.ncbi.nlm.nih.gov/pubmed/36320418
http://dx.doi.org/10.1016/j.omtm.2022.09.015

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