Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
Journal of Paediatrics and Child Health2020Vol. 57(4), pp. 519–525
Citations Over TimeTop 15% of 2020 papers
Charles Marques Lourenço, André Luiz Santos Pessoa, Carmen Curiati Mendes, Carolina Rivera‐Nieto, Diane Vergara, M. Troncoso, Emily Gardner, Francisca Mallorens, Lina Marcela Tavera, Luis Arturo Lizcano, Nora Atanacio, Norberto Guelbert, Norma Spécola, Nury Mancilla, Carolina Fischinger Moura de Souza, Sara Mole
Abstract
Our findings reinforce the inclusion of CLN2 in the differential diagnosis of children presenting with seizures, behavioural disorders and language abnormalities. Early diagnosis will allow early initiation of specific therapy.
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