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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Research Articles
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados