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

被引:15
作者
Alcaide, Patricia [1 ,2 ]
Rodriguez-Pombo, Pilar [1 ,2 ]
Ruiz-Sala, Pedro [1 ,2 ]
Ferrer, Isaac [1 ,2 ]
Castro, Pedro [3 ]
Ruiz Martin, Yolanda [3 ]
Merinero, Begona [1 ,2 ]
Ugarte, Magdalena [1 ,2 ]
机构
[1] Univ Autonoma Madrid, CSIC UAM, Dept Biol Mol CBM SO, Ctr Diagnost Enfermedades Mol, Madrid, Spain
[2] CIBERER, Madrid, Spain
[3] Hosp Gen Gregorio Maranon, Serv Neuropediat, Madrid, Spain
关键词
MENTAL-RETARDATION; GUANIDINOACETATE; DEFECT;
D O I
10.1111/j.1469-8749.2009.03480.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:215 / 217
页数:3
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