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6
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Gene therapy in pediatrics - Clinical studies and approved drugs (as of 2023).儿科基因治疗 - 临床研究与获批药物(截至 2023 年)。
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AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia.腺相关病毒介导的类固醇生成中肝-肾上腺协同作用:对先天性肾上腺皮质增生症基因治疗的意义。
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先天性肾上腺皮质增生症辅助治疗的整合

Integration of Adjunctive Therapy for Congenital Adrenal Hyperplasia.

作者信息

Speiser Phyllis W

机构信息

Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra-Northwell, Hempstead, NY 11549, USA.

Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA.

出版信息

Children (Basel). 2025 Jul 8;12(7):898. doi: 10.3390/children12070898.

DOI:10.3390/children12070898
PMID:40723091
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12293742/
Abstract

CAH represents a prototypical enzyme deficiency disorder, most commonly affecting steroid 21-hydroxylase, in which the critical adrenal pathway from cholesterol to cortisol is blocked [...].

摘要

先天性肾上腺皮质增生症是一种典型的酶缺乏症,最常见的是影响类固醇21-羟化酶,其中从胆固醇到皮质醇的关键肾上腺途径被阻断[...]。