X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability

被引：0

作者：

Nielsen, Malene Mejdahl ^{[1
]}

Petersen, Esben Thade ^{[2
,3
]}

Fenger, Christina Duhring ^{[4
,5
]}

Orngreen, Mette Cathrine ^{[6
,7
]}

Siebner, Hartwig R. ^{[2
,8
,9
]}

Boer, Vincent Oltman ^{[2
]}

Povazan, Michal ^{[2
]}

Lund, Allan ^{[6
,7
,9
]}

Gronborg, Sabine ^{[6
,7
]}

Hammer, Trine Bjorg ^{[1
,4
]}

机构：

[1] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark

[2] Copenhagen Univ Hosp Amager & Hvidovre, Danish Res Ctr Magnet Resonance, Ctr Funct & Diagnost Imaging & Res, Hvidovre, Denmark

[3] Tech Univ Denmark, Sect Magnet Resonance, Dept Hlth Technol, Lyngby, Denmark

[4] Danish Epilepsy Ctr, Epilepsy Genet & Personalized Med, Dianalund, Denmark

[5] Amplexa Genet, Odense, Denmark

[6] Copenhagen Univ Hosp, Rigshosp, Dept Paediat, Ctr Inherited Metab Dis, Copenhagen, Denmark

[7] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Ctr Inherited Metab Dis, Copenhagen, Denmark

[8] Univ Copenhagen, Hosp Bispebjerg & Frederiksberg, Dept Neurol, Copenhagen, Denmark

[9] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark

来源：

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P07.003.C

引用

页码：427 / 428

页数：2