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Organic Acidurias: An Updated Review

机译:有机酸尿症:最新评论

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摘要

Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.
机译:有机酸尿症是由于碳水化合物,氨基酸和脂肪酸氧化的中间代谢途径的缺陷而引起的一类重要的遗传性代谢疾病。这篇综述总结了有关印度人口中重要的有机酸尿症的当前知识。具体而言,涵盖了有机酸尿症的诊断和治疗原则。对一些常见的有机酸尿症的显着特征及其在世界各地的流行进行了详细的综述。

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