Novel translational phenotypes and biomarkers for creatine transporter deficiency

Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behaviour and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for monitoring disease progression and response to th...

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Detalles Bibliográficos
Autores principales: Mazziotti, Raffaele, Cacciante, Francesco, Sagona, Giulia, Lupori, Leonardo, Gennaro, Mariangela, Putignano, Elena, Alessandrì, Maria Grazia, Ferrari, Annarita, Battini, Roberta, Cioni, Giovanni, Pizzorusso, Tommaso, Baroncelli, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7472907/
https://www.ncbi.nlm.nih.gov/pubmed/32954336
http://dx.doi.org/10.1093/braincomms/fcaa089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7472907/
https://www.ncbi.nlm.nih.gov/pubmed/32954336
http://dx.doi.org/10.1093/braincomms/fcaa089

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