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The Lipid Storage Diseases: New Concepts and Control

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▸Requests for reprints should be addressed to Roscoe O. Brady, M.D., Developmental and Metabolic Neurology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20014.

Bethesda, Maryland A New York University Honors Program Lecture

Ann Intern Med. 1975;82(2):257-261. doi:10.7326/0003-4819-82-2-257
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The nature of the enzymatic defect is now well established in ten inherited disorders of lipid metabolism. This information has provided for the development of facile, sensitive tests using readily available materials such as washed leukocytes or cultured skin fibroblasts for the diagnosis of these disorders; the detection of heterozygous carriers of these traits; and the monitoring of pregnancies at risk for any of these conditions. Recent investigations of enzyme replacement therapy have shown great promise for the treatment of patients with Fabry's disease and those with the adult form of Gaucher's disease. Additional procedures must be developed for successful enzyme replacement in patients where the central nervous system is damaged by the accumulation of lipids.


lipid storage





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