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A novel mouse model of creatine transporter deficiency

Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral disturbances, language and speech impairment ( OMI...

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Detalles Bibliográficos
Autores principales: Baroncelli, Laura, Alessandrì, Maria Grazia, Tola, Jonida, Putignano, Elena, Migliore, Martina, Amendola, Elena, Gross, Cornelius, Leuzzi, Vincenzo, Cioni, Giovanni, Pizzorusso, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243761/
https://www.ncbi.nlm.nih.gov/pubmed/25485098
http://dx.doi.org/10.12688/f1000research.5369.1

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