Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

被引：6

作者：

Au, Lisa Wing Chi ^{[1
]}

Lee, Hencher Han Chih ^{[2
]}

Sheng, Bun ^{[3
]}

Chan, Kwok Yin ^{[4
]}

Yau, Eric Kin Cheong ^{[4
]}

Mak, Chloe Miu ^{[2
]}

Chan, Albert Yan Wo ^{[2
]}

Chan, Anne Yin Yan ^{[1
]}

Lau, Claire Ka Yee ^{[1
]}

Mok, Vincent Chung Tong ^{[1
]}

Lam, Ching Wan ^{[5
]}

机构：

[1] Chinese Univ Hong Kong, Prince Wales Hosp, Margaret KL Cheung Res Ctr Management Parkinsonis, Gerald Choa Neurosci Ctr,Div Neurol,Dept Med & Th, Hong Kong, Peoples R China

[2] Princess Margaret Hosp, Dept Pathol, Hong Kong, Peoples R China

[3] Princess Margaret Hosp, Dept Med & Geriatr, Hong Kong, Peoples R China

[4] Princess Margaret Hosp, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[5] Univ Hong Kong, Queen Mary Hosp, Dept Pathol, Hong Kong, Peoples R China

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 2020年 / 199卷

关键词：

TPK1; Dystonia; Tremor; Spasticity; Movement disorders;

D O I：

10.1016/j.clineuro.2020.106258

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页数：3

共 5 条

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[2] THIAMINE-RESPONSIVE DISEASE DUE TO MUTATION OF TPK1: IMPORTANCE OF AVOIDING MISDIAGNOSIS
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[J]. NEUROLOGY, 2017, 89 (08) : 870 - 871
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[4] Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway
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[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (06) : 806 - 812
[5] Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
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[J]. BMC BIOINFORMATICS, 2010, 11

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