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1 research outputs found
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Author
Antoniuk Sérgio Antônio
Cunha Paulina
+23Â more
Della-Ripa Bruno
Doriqui Maria Juliana Rodovalho
Durand Consuelo
Fontão Ramiro
Freua Fernando
Garcia Antônio Milton Silva
Houlden Henry
Kitajima João Paulo
Kok Fernando
Lynch David S
Macedo-Souza Lúcia Inês
Madeiro Bianca de Aguiar Coelho Silva
Moreno Cristiane Araujo Martins
Nardes Flávia
Nóbrega Paulo Ribeiro
Paiva Anderson Rodrigues Brandão de
Peixoto de Barcelos Isabella
Pessoa André Luiz Santos
Spécola Norma
Takeuchi Carlos Augusto
Taniguti Lucas Mitsuo
Troncoso Mónica
Vergara Diane
Publication venue
BMJ Publishing Group
Publication date
03/02/2023
Field of study
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UCL Discovery
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