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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Revinter Publicações Ltda.
2023
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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 |