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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Pubblicato in:J Dev Behav Pediatr
Autori principali: Thurm, Audrey, Himelstein, Daniel, D'Souza, Precilla, Rennert, Owen, Jiang, Susanqi, Olatunji, Damilola, Longo, Nicola, Pasquali, Marzia, Swedo, Susan, Salomons, Gajja S, Carrillo, Nuria
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online: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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