Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and the depletion of Cr, which result in severe global d...

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Detalles Bibliográficos
Autores principales: Rossi, Luigia, Nardecchia, Francesca, Pierigè, Francesca, Ventura, Rossella, Carducci, Claudia, Leuzzi, Vincenzo, Magnani, Mauro, Cabib, Simona, Pascucci, Tiziana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391262/
https://www.ncbi.nlm.nih.gov/pubmed/34440375
http://dx.doi.org/10.3390/genes12081201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391262/
https://www.ncbi.nlm.nih.gov/pubmed/34440375
http://dx.doi.org/10.3390/genes12081201

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