ROBERT A. KNOX, M.D., F.A.C.P.; GEORGE W. RAMSEY, M.D., F.A.C.P.
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Niemann-Pick's disease is a disease of infancy characterized clinically by an enlargement of the liver, spleen and lymph glands, associated with yellowish brown pigmentation of the skin and accompanied by an enlarged abdomen and more or less emaciation. Cranial and skeletal changes may be associated. It is a fatal condition, being characterized by progressive wasting. Death may be due to intercurrent affections. "It is a congenital, familial, constitutional, systemic disease which manifests itself as a disturbance of the lipoid metabolism and leads to a deposit of complex cellular substances in the cells of the reticulo-endothelial apparatus. Its etiology and pathogenesis
KNOX RA, RAMSEY GW. Niemann-Pick's Disease*†: (Essential Lipoid Histiocytosis). Ann Intern Med. 1932;6:218–226. doi: https://doi.org/10.7326/0003-4819-6-2-218
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Published: Ann Intern Med. 1932;6(2):218-226.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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