Clinical Approach to the Diagnoses of Inborn Errors of Metabolism
Clinical Approach to the Diagnoses of Inborn Errors of Metabolism
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DOI：
10.1016/j.pcl.2008.07.004
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发表时间：
2008-10-01
影响因子：
2.6
通讯作者：
Kamboj, Manmohan
中科院分区：
文献类型：
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作者：
Kamboj, Manmohan
先天性代谢缺陷是一种复杂的、相对罕见的疾病，可导致严重的发病率和死亡率。早期识别和实施适当的治疗措施对于最大限度地降低发病率和改善临床结局至关重要。本文旨在解决IEM的基础知识，使初级保健医生熟悉不同类型的代谢紊乱，基本诊断策略，新生儿筛查计划和适当的治疗策略。诊断和治疗选择的进步导致许多这些患者的寿命延长和临床结局改善。
Inborn errors of metabolism (IEMs) are complex relatively uncommon medical conditions resulting in significant morbidity and mortality. Early recognition and implementation of adequate therapeutic measures are of the utmost importance in minimizing morbidity and improving clinical outcome. This article aims to address the basics of IEMs for familiarizing primary care physicians with different types of metabolic disorders, basic diagnostic strategies, newborn screening programs, and appropriate treatment strategies. Advances in diagnostic and therapeutic options are resulting in increasing longevity and improvement in the clinical outcome of many of these patients.