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Gaucher Disease: A Century of Delineation and Research

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  • Book Review
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  • Biology
  • Chemistry
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  • Medicine

Abstract

BOOK REVIEWS 257 the controversies in treatment of thyroid cancer is presented by Dr. R.D. Leeper. Several articles are well presented, put into perspective, and are also well referenced, but the overall quality and even the print offset is very heterogenous (and unfor- tunately not free of typographical errors). Nevertheless, this book contains valuable material for clinicians and researchers in the fields of endocrinology and internal medicine and also for whoever is interested in recent developments in thyroid disease. LUDO DE KEYSER Division of Endocrinology UCLA School of Medicine GAUCHER DISEASE: A CENTURY OF DELINEATION AND RESEARCH. Edited by Robert J. Desnick, Shimon Gatt, and Gregory A. Grabowski. New York, Alan R. Liss, Inc., 1982. 740 pp. $76.00. This book publishes the proceedings of the First International Symposium of Gaucher Disease held in New York City in July 1981. The 95 participants in this symposium include most of the world's leading experts on this disorder. It is probably the most up-to-date collection of papers about the history, pathology, clinical aspects, and biochemical aspects of Gaucher disease in print at the present time. The historical perspective at the beginning of the book is an excellent review of the progress of our understanding of the pathogenesis of this disorder from clinical description to molecular delineation of the enzymatic defect and the gene location to chromosome 1. The first section focuses on therapy and attempts at enzyme replacement, hetero- zygote detection, and genetic heterogeneity. The mechanisms discussed apply to other genetically determined inborn errors of metabolism and lysosomal function. In the clinical section there is a clear discussion of the clinical variability with various sub-types of this group of disorders, such as the Swedish and North African vari- ants, and the correlation with the biochemical findings in the enzymatic activity. Chemical pathology and morphology are the topics in the second section, with photomicr

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