A Quick Guide to Metabolic Disease Testing Interpretation

  • Author : Patricia Jones
  • Publsiher : Academic Press
  • Release : 31 July 2020
  • ISBN : 9780128169278
  • Page : 220 pages
  • Rating : 4/5 from 21 voters

Download or read online book entitled A Quick Guide to Metabolic Disease Testing Interpretation written by Patricia Jones and published by Academic Press. This book was released on 31 July 2020 with total page 220 pages. Available in PDF, EPUB and Kindle. Get best books that you want by click Get Book Button and Read as many books as you like. Book Excerpt : 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 compounds Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism Highlights brief descriptions of the etiology and clinical presentation of each presented disorder

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