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Updated: Aug 7, 2026

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ガトリーカードから決定された中鎖アシル-CoA脱水素酶遺伝子のK329E変異の発生率

Y Matsubara1, K Narisawa, K Tada

  • 1Department of Biochemical Genetics, Tohoku University School of Medicine, Japan.

Lancet (London, England)
|August 31, 1991
PubMed
まとめ

中鎖アシル-コア脱水素酵素 (MCAD) 欠乏症は,遺伝的疾患であり,乳児死亡と関連しています. 新生児におけるK329E変異のスクリーニングは,早期の食事管理を可能にし,重度のアウトカムを予防することができます.

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