Advances in Chemical Diagnosis and Treatment of Metabolic Disorders

A volume of conference proceedings which combines analytical aspects of the diagnosis of metabolic disorders with the results of the analyses applied to the treatment of these disorders. Emphasis is placed on the organic acid disorders for which certain techniques are particularly important.

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One of the most exciting advances in diagnostic medicine is the application of mass spectrometry (MS) for the analysis of biological specimens. MS offers fast and accurate analysis, pinpointing component elements in the specimen accurately, and giving a clear and easily-interpreted print-out. In addition, MS is one of the most accurate methods for structure analysis, and the combination of MS with gas chromatography (GC), as demonstrated in many of the papers in this volume, gives a wide-ranging diagnostic capability. This initial volume brings together a collection of updated and completely revised papers from the first and second Symposia on Chemical Diagnosis of Metabolic Disorders. A number of the papers have been completely rewritten to reflect the present-day status of knowledge and expanded clinical experience.