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- W1985600596 abstract "Gaucher's disease, according to the present conception, may be defined as a nonhereditary congenital familial disease due to disturbed lipoid metabolism with the production of an abnormal substance (kerasin). This is stored by histiocytes of reticulo-endothelial origin, giving rise to the typical Gaucher cell, which is found in all tissues, chiefly the spleen, lymph glands, liver and bone marrow, in which reticulo-endothelium is present. Clinically, the disease is characterized by splenomegaly, hepatomegaly, pigmentation of the skin, pinguecula-like thickenings of the ocular conjunctivae, hemorrhagic diathesis, unique changes in the bones with discrete or confluent rarefactions, leukopenia, anemia of the hypochromic variety, thrombocytopenia, and in infants there may be a preponderance of neurologic symptoms.<sup>1</sup> Lymphadenopathy is seldom encountered, although it occurs at times, and diagnosis has been made in some instances from an inguinal gland removed at biopsy.<sup>1</sup>Ascites seldom occurs. Pain in the form of a dull ache is" @default.
- W1985600596 created "2016-06-24" @default.
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- W1985600596 date "1933-09-23" @default.
- W1985600596 modified "2023-10-18" @default.
- W1985600596 title "HEREDITARY GAUCHER'S DISEASE" @default.
- W1985600596 cites W2032560154 @default.
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- W1985600596 doi "https://doi.org/10.1001/jama.1933.02740380015005" @default.
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