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

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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Bibliographic Details
Main Authors: Leticia Pereira de Brito Sampaio, Maria Luiza Giraldes de Manreza, André Pessoa, Juliana Gurgel-Giannetti, Ana Carolina Coan, Hélio van der Linden Júnior, Emília Katiane Embiruçu, Adélia Maria de Miranda Henriques-Souza, Fernando Kok
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2023-03-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Neuronal Ceroid-Lipofuscinoses
Language Development Disorders
Consensus
Enzyme Replacement Therapy
Epilepsy
Lipofuscinoses Ceroides Neuronais
Transtornos do Desenvolvimento da Linguagem
Consenso
Terapia de Reposição Enzimática
Epilepsia
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1761434

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1761434

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