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Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil by Ida Vanessa Doederlein Schwartz, Andrea Amaro Quesada, Erlane Marques Ribeiro, Ana Maria Martins, Daniel Reda Fenga Vilela, André Pessoa
Published 2023-07-01Get full text
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A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease by Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira
Published 2024-05-01Get full text
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