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Author/Creator Vergara, Diane

1. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. Issue 5 (3rd February 2023)

Authors:
Paiva, Anderson Rodrigues Brandão de; Pessoa, André Luiz Santos; Nóbrega, Paulo Ribeiro; Moreno, Cristiane Araujo Martins; Lynch, David S; Taniguti, Lucas Mitsuo; Kitajima, João Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; Peixoto de Barcelos, Isabella; Macedo-Souza, Lúcia Inês; Tak...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 94:Issue 5(2023)
Page Start:
405
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. (30th December 2020)

Authors:
Lourenço, Charles M; Pessoa, Andre; Mendes, Carmen C; Rivera‐Nieto, Carolina; Vergara, Diane; Troncoso, Mónica; Gardner, Emily; Mallorens, Francisca; Tavera, Lina; Lizcano, Luis A; Atanacio, Nora; Guelbert, Norberto; Specola, Norma; Mancilla, Nury; de Souza, Carolina F M; Mole, Sara E
Journal:
Journal of paediatrics and child health
Issue:
Volume 57:Number 4(2021)
Page Start:
519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗