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- W2154014780 abstract "THE usual course of a patient with cerebromacular degeneration (Tay- Sachs disease, amaurotic family idiocy) is progressive cerebral degeneration and death. Morphologic and biochemical studies of postmortem material have been described (1, 2, 3). However biochemical studies during life and the endocrinologic aspects of the condition have received scant attention. Marburg (4) described morphologic changes in the endocrine glands in cases of Tay-Sachs disease and cited the findings of earlier workers. No functional endocrine studies, however, were reported. Amaurotic family idiocy is believed to be related to the metabolic disorders classified as the lipoidoses. According to Globus (1) the basic derangement is a defective cell which is incapable of assimilating lipoid material, due perhaps to deficiencies in lipolytic enzymes. The frequency of elevated serum cholesterol values in Cushing's syndrome and low values in Addison's disease is well known. The recent work of Conn (5) and Aldersberg (6) point to a c..." @default.
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- W2154014780 date "1951-08-01" @default.
- W2154014780 modified "2023-09-27" @default.
- W2154014780 title "THE EFFECT OF ACTH IN A CASE OF CEREBROMACULAR DEGENERATION (TAY-SACHS DISEASE): AN ENDOCRINOLOGIC STUDY" @default.
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- W2154014780 doi "https://doi.org/10.1210/jcem-11-8-866" @default.
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