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Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increases with the availability of enzyme replacement ther...

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Detalles Bibliográficos
Autores principales: Sampaio, Leticia Pereira de Brito, Manreza, Maria Luiza Giraldes de, Pessoa, André, Gurgel-Giannetti, Juliana, Coan, Ana Carolina, Júnior, Hélio van der Linden, Embiruçu, Emília Katiane, Henriques-Souza, Adélia Maria de Miranda, Kok, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Revinter Publicações Ltda. 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104757/
https://www.ncbi.nlm.nih.gov/pubmed/37059438
http://dx.doi.org/10.1055/s-0043-1761434