Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy repre...

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Detalles Bibliográficos
Autores principales: Sauer, Aisha V., Hernandez, Raisa Jofra, Fumagalli, Francesca, Bianchi, Veronica, Poliani, Pietro L., Dallatomasina, Chiara, Riboni, Elisa, Politi, Letterio S., Tabucchi, Antonella, Carlucci, Filippo, Casiraghi, Miriam, Carriglio, Nicola, Cominelli, Manuela, Forcellini, Carlo Alberto, Barzaghi, Federica, Ferrua, Francesca, Minicucci, Fabio, Medaglini, Stefania, Leocani, Letizia, la Marca, Giancarlo, Notarangelo, Lucia D., Azzari, Chiara, Comi, Giancarlo, Baldoli, Cristina, Canale, Sabrina, Sessa, Maria, D’Adamo, Patrizia, Aiuti, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225479/
https://www.ncbi.nlm.nih.gov/pubmed/28074903
http://dx.doi.org/10.1038/srep40136

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