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It brings together for the first time a collection of updated and completely revised papers from the first and second Symposia on Chemical Diagnosis of Metabolic Disorders.
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.
Partial table of contentsPyruvate Dehydrogenase Complex Deficiency (Y. Kuroda, et al.). Urinary Organic Acid Profiles of Melas Patients with Complex 1 Deficiency (Y. Kusunoki, et al.). ORGANIC ACIDEMIA. Multiple Carboxylase Deficiency: A Case Report (H. Chikaoka, et al.). The ''Unspecified Syndrome'' Type of 3-Methylglutaconic Aciduria (H. Tanaka, et al.). UREA CYCLE DISORDER. Mass Spectrometry in the Diagnosis and Treatment of Ornithine Transcarbamylase Deficiency in Two Brothers (S. Murao). DRUG-INDUCED METABOLIC DEFECT. Metabolic Changes in a Case of Acute Encephalopathy Associated with Administration of Calcium Hopantenate (M. Kajita, et al.). ANALYTICAL TECHNIQUES. High-Performance Liquid Chromatographic Determination of Urinary Acylcarnitine (T. Shinka, et al.). Indexes.