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September 1966

Inborn Errors of Metabolism.

Am J Dis Child. 1966;112(3):270. doi:10.1001/archpedi.1966.02090120138024

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This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph.

The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature. The user is referred elsewhere for inorganic chemical, serologic, and hematologic methods.

The technics employed are spectrophotometric, electrophoretic, chromatographic, radiographic, and conventional organic. In some cases their use requires access to equipment more elaborate than is commonly found outside of teaching hospital laboratories. As the author states, their successful application "requires a degree of sophistication and knowledge of clinical and biochemical techniques and instrumentation." These limitations are, of course, not imposed by the book but by the nature of the matter per se.

An appendix correlates the tests with the subject matter of Part 1. The discriminatingly chosen references make the bibliography useful.


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