The Treatment of Inherited Metabolic Diseases

William J. Arnold, MD
Arch Intern Med. 1976;136(11):1330. doi:10.1001/archinte.1976.03630110088023.
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The areas of molecular genetics and inborn errors of metabolism are unfortunately unfamiliar to many physicians. They are often thought to be representative of a detached group of clinical scientists, biochemists, and geneticists who in the dark recesses of their laboratories and clinics pursue the unraveling of those rare diseases representing an "experiment of nature." All too frequently, the exciting therapeutic or purely scientific advances made in relation to human genetic diseases are seemingly couched in terminology that is difficult to understand or complicated by controversy concerning the ethics of genetic engineering or gene manipulation. Also, in this era of highly advanced technology, the medical literature may appear to be overburdened with novel and theoretical approaches to the treatment of genetic diseases while underemphasizing the relevant and immediately useful aspects of therapy. In this sense, Dr Raines and his contributors have taken a long leap forward in advancing a better


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