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中文Thiamine Metabolism Dysfunction Syndrome 4 (THMD4)
Alias:
Bilateral Striatal Degeneration and Progressive Polyneuropathy
Thmd4
Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration and Progressive Polyneuropathy Type
Progressive Demyelinating Neuropathy with Bilateral Striatal Necrosis
Striatal Necrosis, Bilateral, and Progressive Polyneuropathy
Progressive Polyneuropathy with Bilateral Striatal Necrosis
Striatal Necrosis, Bilateral and Progressive Polyneuropathy
Thiamine Metabolism Dysfunction Syndrome, Type 4
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四硫胺素代谢障碍综合征4，又称双侧基底节变性和进行性多神经病，与小头畸形、阿米什型和多神经病有关，症状包括嗜睡和无力。与四硫胺素代谢障碍综合征4有关的重要基因是SLC25A19（溶质载体家族25成员19）。相关组织包括脑和尾状核，相关表型为CSF乳酸增加和行走困难。
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