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KMID : 0361619930280051898
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Journal of the Korean Orthopaedic Association
1993 Volume.28 No. 5 p.1898 ~ p.1905
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Gaucher's Disease -A Case Report-
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Abstract
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Gaucher's disease is an uncommon inborn metabolic disorder, which was first decribed by Gaucher in 1992, charcterized by accumulation of the glucocerebrosiides in the reticuloendothelial system such as spleen, liver and bone marrow due to the
deficiency
of β-Glucocerebrosidase.
The great majority of cases have been reported in jews and some others in negros and orientals.
We are presenting a case of 6-year-old female patient with Gaucher's disease. It was diagnosed by enzyme analysis and characteristic histologic findings of bony manifestations like avascular necrosi of femoral head and pathologic fractures of
both
femoral necks after partial splenectomy.
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KEYWORD
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