Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome

被引：15

作者：

Alkufri, Fadi ^{[1
,2
]}

Harrower, Tim ^{[3
]}

Rahman, Yusof ^{[4
]}

Hughes, Elaine ^{[5
]}

Mundy, Helen ^{[4
]}

Knibb, Jonathan A. ^{[6
]}

Moriarty, John ^{[7
]}

Connor, Stephen ^{[8
]}

Samuel, Michael ^{[1
,2
]}

机构：

[1] Kings Coll Hosp NHS Fdn Trust, Dept Neurol Kings Hlth Partners, London, England

[2] East Kent Hosp Univ NHS Fdn Trust Ashford, Ashford, Kent, England

[3] Royal Devon & Exeter Fdn Trust, Dept Neurol Devon, Exeter, Devon, England

[4] Evelina Childrens Hosp, Dept Inherited Metab Dis London, London, England

[5] Evelina Childrens Hosp, Dept Pediat Neurol London, London, England

[6] Brighton & Sussex Univ Hosp NHS Trust Brighton, Brighton, E Sussex, England

[7] Kings Coll Hosp, Dept Psychol Med, South London & Maudsley NHS Trust, Kings Hlth Partners London, London, England

[8] Kings Coll Hosp, Dept Neuroradiol, Kings Hlth Partners, London, England

来源：

MOVEMENT DISORDERS | 2013年 / 28卷 / 03期

关键词：

MUTATIONS; MOCS2;

D O I：

10.1002/mds.25276

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：399 / 400

页数：3

共 5 条

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[4] Molybdenum Cofactor Deficiency: Mutations in GPHN, MOCS1, and MOCS2 [J].

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[5] Clinical Neuroimaging Features and Outcome in Molybdenum Cofactor Deficiency [J].

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