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• W2039249302 abstract "There are over 60 inborn errors of amino acid metabolism now recognizable to the clinician and biochemist. Some are associated with disease, others are not. Technology has played a large role in permitting the discovery of “new” aminoacidopathies, and in identifying subjects with acquired or inherited disorders of amino acid metabolism. Moreover simplified and efficient methods can permit mass screening of populations to find the rare person, with incipient disease due to perturbed amino acid metabolism, who may escape detection by the conventional methods of medical diagnosis. This article describes the range of methods available for specific investigation of aminoacidopathies in man, and discusses their relative advantages and disadvantages. The principles and practices of mass screening are also discussed, and a survey of simple laboratory tests, of use in the initial investigation of the patient, is included. Pitfalls in the interpretation of analytic data are considered, and classifications of the disorders of amino acid metabolism are given, with emphasis on the diagnostic approach to probands and heterozygotes and the various body fluids and cell types accessible to pre- and post-natal examination of amino acid metabolism. 1. The paper outlines the efforts made to improve the quality of the determination of amylase in serum by means of amylopectin combined with the “Reactone Red 2B” dye. 2. The enzyme kinetics were studied, after checking the maximum absorption of the hydrolysis products in solution, which are responsible for the amylase activity, and plotting a reference curve. 3. After assessing the precision of the aforesaid technique, the Neumann method (6) was used to determine the normal values for 186 persons. 4. When the activity in serum is high, the original serum must be diluted with albumin. 5. All the reagents required for the amylase determination and used in the study are commercially available from Warner Chillcott Laboratories, Morris Plains, N.J. 07950, under the trade name “Dy Amyl”." @default.
• W2039249302 created "2016-06-24" @default.
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• W2039249302 date "1973-03-01" @default.
• W2039249302 modified "2023-09-25" @default.
• W2039249302 title "On the screening, diagnosis and investigation of hereditary aminoacidopathies" @default.
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• W2039249302 doi "https://doi.org/10.1016/s0009-9120(73)80025-6" @default.
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