A Quick Guide to Metabolic Disease Testing Interpretation —— Testing for Inborn Errors of Metabolism

----- 代谢性疾病测试解释快速指南：测试先天性代谢错误

ISBN: 9780128169261 出版年：2020 页码：222 Jones, Patricia Patel, Khushbu Rakheja, Dinesh Academic Press_RM

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.Includes pathway diagrams and representative compound scans of important diagnostic compoundsProvides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolismHighlights brief descriptions of the etiology and clinical presentation of each presented disorder