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There has been a veritable explosion of information about inherited disorders of amino acid metabolism with continual discovery of new enzymatic deficiencies and variants of those already known. Dr. Nyhan's compilation of the sequence of this explosion is an up-to-date appraisal. The coverage is extensive and in depth. Because the book consists of chapters by individual contributors, there is the anticipated variation in level of presentations and some instances where organization of material could be improved. For example, the discussion of maple-syrup urine disease and its variants presented in three separate chapters could have been combined into one. The high
Heritable Disorders of Amino Acid Metabolism: Patterns of Clinical Expression and Genetic Variation.. Ann Intern Med. ;82:727–728. doi: 10.7326/0003-4819-82-5-727_3
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Published: Ann Intern Med. 1975;82(5):727-728.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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