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Updated: Oct 8, 2026

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ガッシャー病の変種は,心臓弁の漸進的な化とユニークな遺伝子型によって特徴付けられています

A Abrahamov1, D Elstein, V Gross-Tsur

  • 1Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

Lancet (London, England)
|October 14, 1995
PubMed
まとめ

スフィンゴリピド性疾患であるゴーシャー病は,特にD409H変異を持つアラブ人の患者で,弁の結石化などの珍しい心疾患を伴う可能性があります. 早期発見とモニタリングは,この潜在的に深刻な変異の管理に不可欠です.

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