Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability

Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high cost...

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Autores principales: Mencarelli, Maria Antonietta, Tassini, Maria, Pollazzon, Marzia, Vivi, Antonio, Calderisi, Marco, Falco, Michele, Fichera, Marco, Monti, Lucia, Buoni, Sabrina, Mari, Francesca, Engelke, Udo, Wevers, Ron A, Hayek, Joussef, Renieri, Alessandra
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
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Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306553/
https://ncbi.nlm.nih.gov/pubmed/21910234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34208
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