Análise quantitativa da deglutição orofaríngea em indivíduo gastrostomizado com Lipofuscinose Ceróide Neuronal: relato de caso by André Vinicius Marcondes Natel Sales, Paula Cristina Cola, Adriana Gomes Jorge, Fernanda Matias Peres, Rarissa Rúbia Dallaqua dos Santos, Célia Maria Giacheti, Roberta Gonçalves da Silva

Subjects: “…Lipofuscinoses Ceróides Neuronais…”
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Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil by Eugênia Ribeiro Valadares, Mayara Xavier Pizarro, Luiz Roberto Oliveira, Regina Helena Caldas de Amorim, Tarcísio Márcio Magalhães Pinheiro, Ulrike Grieben, Helena Hollanda Santos, Rachel Rabelo Queiroz, Guilherme de Castro Lopes, Ana Lúcia Brunialti Godard

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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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Sjögren: unique surname, two men, four syndromes and one disease by José Vitor Alécio Rodrigues, Fábio Antônio Serra de Lima, Daniel Pereira Maurício de Barros, Gustavo Leite Franklin, Adriana Meira Tiburtino Nepomuceno, Alessandra de Sousa Braz, Hélio A. G. Teive, Alex T. Meira

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Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacient... by ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI

Subjects: “…lipofuscinoses ceróides neuronais…”
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