医学
指南
重症监护医学
疾病
疾病管理
临床实习
代谢性疾病
生物信息学
治疗方法
梅德林
代谢性酸中毒
内科学
作者
Division Of Biochemistry And Metabolism Medical Genetics Branch Chinese Medical Association,Division Of Genetics And Metabolism Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health Care,Xinwen Huang
出处
期刊:PubMed
[National Institutes of Health]
日期:2026-02-10
卷期号:43 (2): 81-89
标识
DOI:10.3760/cma.j.cn511374-20251121-00678
摘要
Citrin deficiency is an inherited metabolic disease that primarily affects the liver, growth and development, and can even lead to death. To deepen the understanding of this disease and improve the diagnostic and therapeutic levels as well as the standardized management of doctors in the relevant fields in China, this "Guidelines for the diagnosis, treatment, and management of Citrin deficiency" have been formulated. This guideline can provide opinions over eight clinical issues related to the diagnosis, treatment, and management of Citrin deficiency based on the currently available clinical evidence.
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