Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. uri icon

authors

  • Paiva, Anderson Rodrigues Brandão de
  • Cunha, Paulina
  • Peixoto de Barcelos, Isabella
  • Macedo-Souza, Lúcia Inês
  • Takeuchi, Carlos Augusto
  • Garcia, Antônio Milton Silva
  • Nardes, Flávia
  • Fontão, Ramiro
  • Antoniuk, Sérgio Antônio
  • Troncoso, Monica
  • Spécola, Norma
  • Pessoa, André Luiz Santos
  • Durand, Consuelo
  • Madeiro, Bianca de Aguiar Coelho Silva
  • Doriqui, Maria Juliana Rodovalho
  • Vergara, Diane
  • Houlden, Henry
  • Kok, Fernando
  • Nóbrega, Paulo Ribeiro
  • Moreno, Cristiane Araujo Martins
  • David Lynch, MD, PhD
  • Taniguti, Lucas Mitsuo
  • Kitajima, João Paulo
  • Freua, Fernando
  • Della-Ripa, Bruno

publication date

  • January 1, 2023