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Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme

Neuronal ceroid lipofuscinosis type 1(CLN1 disease) is a rare autosomal recessive lysosomal storage disease caused by genetic defects of palmitoyl protein thioesterase-1(PPT1), leading to accumulation of lipofuscin granules in brain and progressive neurodegeneration. Psychomotor regression, seizures...

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Detalles Bibliográficos
Autores principales:	Hahn, Andreas, Sato, Yuji, Ikeda, Toshiaki, Sonoda, Hiroyuki, Schmidt, Mathias, Pfrimmer, Charlotte, Boado, Ruben J., Pardridge, William M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618832/ https://www.ncbi.nlm.nih.gov/pubmed/36324638 http://dx.doi.org/10.1016/j.ymgmr.2022.100930

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