The present review deals with the recent developments in metabolome analysis to improve the diagnosis of diseases and the identification of biomarkers. A particular focus has been put on the application of the non-invasive and up-to-date microsampling and microextraction procedures for the targeted/untargeted metabolome analysis from low volume of samples. These approaches aim to enhance sensitivity for the study of highly bioactive, short-lived, and low-abundant metabolites from complex matrices, especially when access to high sample volumes is not possible. The main strengths and weaknesses of those modern approaches as well as robust solutions to meet the undeniable challenges in metabolomics field are also presented. Moreover, some attractive alternatives for the better extraction of hydrophilic metabolites are discussed. Besides, information are given related to method validation results (such as recovery, matrix effect, detection limit, reproducibility, stability, etc.) as well as perspectives of these modern procedures in the context of diseases understanding, diagnosis, and follow up.

本文综述了代谢组学分析的最新进展，以改善疾病的诊断和生物标志物的鉴定。特别关注的是非侵入性和最新的微量采样和微量提取程序在从少量样品中进行目标/非目标代谢组分析的应用。这些方法旨在提高研究复杂基质中高生物活性，短寿命和低丰度代谢物的敏感性，尤其是在无法获得大量样品的情况下。还介绍了这些现代方法的主要优点和缺点，以及应对代谢组学领域不可否认的挑战的强大解决方案。此外，讨论了更好地提取亲水性代谢物的一些有吸引力的替代方法。除了，