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Deletion of the creatine transporter gene in neonatal, but not adult, mice lead to cognitive deficits.
Creatine (Cr) is a guanidino compound that provides readily-available phosphate pools for the regeneration of spent ATP. The lack of brain Cr causes moderate to severe intellectual disability, language impairment, and epilepsy. The most prevalent cause of Cr deficiency are mutations in the X-linked...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6739135/ https://ncbi.nlm.nih.gov/pubmed/31209903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12137 |
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