Browsing by Author "749f1b77-0924-471e-8dfd-4e4655e9433e"

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    • Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from ... 
      Lourenco, Charles M.; Pessoa, Andre; Mendes, Carmen C.; Rivera Nieto, Carolina; Vergara, Diane; Troncoso, Mónica; Gardner, Emily; Mallorens, Francisca; Tavera, Lina; Lizcano, Luis A.; Atanacio, Nora; Guelbert, Norberto; Specola, Norma; Mancilla, Nury; De Souza, Carolina F. M.; Mole, Sara E (Wiley, 2020)
      Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive ...