卟啉
急性间歇性卟啉症
RNA干扰
医学
核糖核酸
基因
内科学
生物
遗传学
作者
Eliane Sardh,Pauline Harper,Manisha Balwani,Penelope E. Stein,David C. Rees,D. Montgomery Bissell,Robert J. Desnick,Charles Parker,John D. Phillips,Herbert L. Bonkovsky,Daphne Vassiliou,Craig Penz,Amy Chan-Daniels,Qiuling He,William Querbes,Kevin Fitzgerald,Jae Bum Kim,Pushkal Garg,Akshay Vaishnaw,Amy Simon
标识
DOI：10.1056/nejmoa1807838
摘要
Induction of delta aminolevulinic acid synthase 1 (ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute intermittent porphyria, a rare inherited disease of heme biosynthesis. Givosiran is an investigational RNA interference therapeutic agent that inhibits hepatic ALAS1 synthesis.
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(2025-6-4)
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