Article
A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.
The International journal of neuroscience - 1 May 2023
Zhai Hongyin, Zheng Yaofeng, He Yiduo, Zhang Yong, Guo Zhikuan, Cui Wenzhe, Sun Li
Abstract excerpt
Background: The monoamine neurotransmitter disorders are neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines (the catecholamines dopamine, norepinephrine and epinephrine; serotonin), which are increasingly recognized as an expanding group of inherited neurometabolic syndromes.Case Description: A 6-month-old male infant who presented with developmental...
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