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

来源：

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2010年 / 52卷 / 02期

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

页码：215 / 217

页数：3

共 15 条

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