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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

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