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Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case
OBJECTIVE: Creatine Transporter Deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine deficiency and caused by mutations in SLC6A8, the creatine transporter 1 protein gene. CTD is identified by elevated urine creatine...
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| Publicado no: | J Dev Behav Pediatr |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907372/ https://ncbi.nlm.nih.gov/pubmed/27096572 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/DBP.0000000000000299 |
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