Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

AIM: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2–4...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049023/
https://www.ncbi.nlm.nih.gov/pubmed/33377563
http://dx.doi.org/10.1111/jpc.15250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049023/
https://www.ncbi.nlm.nih.gov/pubmed/33377563
http://dx.doi.org/10.1111/jpc.15250

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