Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatmen...

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Detalles Bibliográficos
Autores principales: Battini, Roberta, Alessandrì, M. Grazia, Casalini, Claudia, Casarano, Manuela, Tosetti, Michela, Cioni, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289057/
https://www.ncbi.nlm.nih.gov/pubmed/28148286
http://dx.doi.org/10.1186/s13023-017-0577-5

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