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Biochemical Genetics in Neurology
Roscoe O. Brady, MD
Arch Neurol. 1976;33(3):145-151.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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Remarkable advances in the past five years now permit the control of an important segment of hereditary disorders of metabolism that cause central nervous system (CNS) damage. The application of this knowledge has provided immense relief of human suffering and distress. It is therefore exigent that neurologists be aware of these developments and how they may be applied to patients. This article describes briefly how we learned the causes of ten inherited lipid storage diseases and indicates how this information is used to control the incidence of these disorders. It also provides a précis of the current status of research in mucopolysaccharide storage diseases, and concludes with a demonstration of a new concept in hereditary neurologic diseases caused by a defect in the synthesis of critical brain components.
LIPID STORAGE DISEASES
Clinical Descriptions
Physicians have been aware of clinical manifestations of several of the lipidoses for nearly a century.
. . . [Full Text PDF of this Article]
Author Affiliations
From the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, Md.
Footnotes
Accepted for publication June 17, 1975.
Reprint requests to National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20014 (Dr Brady).
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