Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children
International Journal of Developmental Neuroscience(2019)
摘要
•TH deficiency is an autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11.•TH deficiency leads to developmental delay, infantile parkinsonism and encephalopathy.•We report three TH deficiency patients. After L-DOPA treatment, their condition had improvement.
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关键词
Tyrosine hydroxylase (TH) deficiency,Genetic diagnosis,Levodopa,Treatment
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