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Updated: Mar 14, 2026

Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies
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氨酸基基转移酶缺乏和2,8-二氧氨尿酸缺乏

Vidar O Edvardsson1,2, Hrafnhildur L Runolfsdottir3, Runolfur Palsson4,5

  • 1Children's Medical Center, Landspitali University Hospital, Reykjavik, 101, Iceland. vidare@lsh.is.

Pediatric nephrology (Berlin, Germany)
|March 13, 2026
PubMed
概括

氨酸基转移酶 (APRT) 缺乏导致结石和功能衰竭. 早期诊断和用阿洛普醇或费布斯塔特治疗是有效和安全的,可以预防脏损伤并改善移植结果.

关键词:
急性损伤是什么?急性损伤是什么?慢性脏疾病 慢性脏疾病晶体脏病症 晶体脏病结晶性尿症是什么意思尿布上的污点功能衰竭 功能衰竭是什么?药物治疗 药物治疗尿路结石疾病是什么

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