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在代谢遗传学诊所治疗利用的表征

Mary Riedy1, Jessica Briggs2, Taosheng Huang2

  • 1Division of Outcomes and Practice Advancement (MR), Department of Pharmacy Practice, School of Pharmacy and Pharmaceutical Sciences, University at Buffalo, Buffalo, NY.

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG
|December 19, 2025
PubMed
概括

治疗罕见的代谢遗传性疾病需要大量的药物和医疗配方,通常需要事先授权和专业药房. 临床药剂师可以优化这些高成本疗法的使用.

关键词:
饮食疗法 饮食疗法代谢过程中的先天性错误.代谢途径 代谢途径药物治疗药物治疗罕见的疾病 罕见的疾病

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In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
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