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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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DLD 遺伝子の新型バイアレル変異は,可逆性感覚神経症を引き起こす

Lu Wang1, Ying Xiong1,2, Kaiyan Jiang1

  • 1Department of Neurology and Rare Disease Center, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.

Clinical genetics
|September 1, 2025
PubMed
まとめ

ディヒドロリポアミド脱水素酵素欠乏症 (DLDD) は,以前に関連していない症状である可逆性感覚神経症を引き起こす可能性があります. 早期の食事療法は この珍しい遺伝疾患の患者の症状を 改善しました

キーワード:
分岐鎖アミノ酸ディヒドロリポアミド脱水素酵素欠乏症外周神経系疾患感覚神経症

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