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Article
August 1975

Laboratory Techniques for the Detection of Hereditary Metabolic Disorders

Author Affiliations

Department of Pediatrics University of Colorado Medical Center 4200 E Ninth Ave Denver, CO 80220

Am J Dis Child. 1975;129(8):987-988. doi:10.1001/archpedi.1975.02120450089029

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Abstract

Vivian Shih, MD, is assistant professor of neurology at the Massachusetts General Hospital and a well-known laboratory expert in the field of inborn errors of metabolism. Inheriting the mantle of Dr. Mary Efron, she and Dr. Harvey Levy have developed the much-published Massachusetts Screening Program with its supporting laboratory services.

This small volume on laboratory techniques is well printed and concisely and clearly written. Reproductions of paper chromatograms are rewardingly easy to interpret. Most important of all, the text has the assurance and the attention to small but important details that come only from complete and long familiarity with the subject.

More than half the book is devoted to amino acid procedures, and although there is perhaps a certain overemphasis on paper techniques, chapter 2 is excellent. Organic acid procedures are well and competently covered, but chapter 3 on sugars might have been more detailed. Tissue culture work, mass spectroscopy,

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