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Amino Acid Metabolism and Its Disorders

Am J Dis Child. 1975;129(8):986-987. doi:10.1001/archpedi.1975.02120450088027.
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The metabolism of amino acids and its inborn errors have played an important part in the development of the entire field of human genetics. This field represents one of the better examples of the close union of science and medicine. Advances in methods since the end of the Second World War have resulted in an exponential growth of knowledge in this field. Even the numbers of disorders of amino acid metabolism in man that have been discovered or defined have been increasing at an exponential rate. There is no sign that this is slackening. The period from about 1945 to 1967 reflected the application of chromatographic techniques, particularly paper chromatography, and the triketohydrindene hydrate (Ninhydrin) stain to the study of body fluids. In more recent years we have been seeing the effects of techniques of organic acid analysis and particularly the influence of gas chromatography and mass spectometry. The facts


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