A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

作者:Alcaide Patricia; Rodriguez Pombo Pilar; Ruiz Sala Pedro; Ferrer Isaac; Castro Pedro; Ruiz Martin Yolanda; Merinero Begona; Ugarte Magdalena*
来源:Developmental Medicine and Child Neurology, 2010, 52(2): 215-217.
DOI:10.1111/j.1469-8749.2009.03480.x