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

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Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective by Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, Roberto Giugliani, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Pedro Braga-Neto, Charles Marques Lourenço

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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

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

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Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome by Bethânia de Freitas Rodrigues Ribeiro, André Rodrigues Façanha Barreto, André Pessoa, Raimunda do Socorro da Silva Azevedo, Flávia de Freitas Rodrigues, Bruna da Cruz Beyruth Borges, Natália Pimentel Moreno Mantilla, Davi Dantas Muniz, Jannifer Oliveira Chiang, Lucas Rosa Fraga, Fernanda Sales Luiz Vianna, Maria Teresa Vieira Sanseverino, Lilith Schuler Faccini, Fernanda Eduarda das Neves Martins, Rafael da Silva Azevedo, Lívia Carício Martins, Livia Medeiros Neves Casseb, Consuelo Silva Oliveira, Pedro Fernando da Costa Vasconcelos, Juarez Antônio Simões Quaresma, Alberto Mantovani Abeche, Vania de Mesquita Gadelha Prazeres, Lucia Andreia Nunes de Oliveira, Simone de Menezes Karam, Giulia Radin, Miguel Del Campo, Camila V. Ventura, Lavinia Schuler-Faccini

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