Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia

Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is...

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Detalles Bibliográficos
Autores principales: Freua, Fernando, Almeida, Mariana Espíndola de Castro, Nóbrega, Paulo Ribeiro, de Paiva, Anderson Rodrigues Brandão, Della-Ripa, Bruno, Cunha, Paulina, Macedo-Souza, Lúcia Inês, Bueno, Clarissa, Lynch, David S., Houlden, Henry, Lucato, Leandro Tavares, Kok, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632362/
https://www.ncbi.nlm.nih.gov/pubmed/36180229
http://dx.doi.org/10.1101/mcs.a006232

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