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A comprehensive description of the routine procedures for screening for metabolic disorders seems an ambitious goal, especially if it is to be presented in a relatively thin book. Doctor Shih is well qualified for this challenge. She provides here a disease-oriented approach to screening for metabolic disorders which is meant for those interested primarily in the detection rather than the extensive study of metabolic diseases. The first chapter contains a useful series of tables summarizing the clinical findings in inborn errors of metabolism and the abnormal metabolites by which these disorders are detected. These include amino acid metabolic disorders, amino
Laboratory Technique for the Detection of Hereditary Metabolic Disorders.. Ann Intern Med. 1976;84:236. doi: https://doi.org/10.7326/0003-4819-84-2-236_1
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Published: Ann Intern Med. 1976;84(2):236.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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