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Modern Diagnosis and Treatment of Gaucher's Disease

Ernest Beutler, MD
Am J Dis Child. 1993;147(11):1175-1183. doi:10.1001/archpedi.1993.02160350049007.
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Most physicians regard Gaucher's disease as a rare disorder, vaguely remembered among other esoteric diseases that they were forced to memorize as medical students. In point of fact, Gaucher's disease is the most common of the glycolipid storage disorders. The frequency of the disease genotype is about 1:1000 in the Ashkenazi Jewish population, the ethnic group in which it is most commonly found. The importance of understanding this disorder has been increased by recent developments that have simplified the diagnosis, made possible population-based screening, and provided an effective therapy for those patients who need it.

CLINICAL MANIFESTATIONS  Clinically, Gaucher's disease has been divided into three types. 1 Type 1 is the most common form and is characterized by sparing of the central nervous system from the primary effects of glycolipid accumulation. The rare type 2 Gaucher's disease, in contrast, is an acute form with

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