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The varied clinical and laboratory manifestations of type II Gaucher's disease.

作者信息

Laks Y, Passwell J

出版信息

Acta Paediatr Scand. 1987 Mar;76(2):378-80. doi: 10.1111/j.1651-2227.1987.tb10485.x.

DOI:10.1111/j.1651-2227.1987.tb10485.x
PMID:3035864
Abstract

An infant of Arab extraction with the Type II form of Gaucher's disease is described. His clinical presentation was unusual because in addition to the extensive neurological involvement and marked hepatosplenomegaly a severe congestive cardiomyopathy and renal tubular dysfunction were present. In addition, marked hypergammaglobulinemia and raised serum angiotensin converting enzyme levels were found. It is suggested that these varied manifestations may be ascribed to the consequences of glucocerebroside deposition within the macrophages of the reticuloendothelial system.

摘要

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The varied clinical and laboratory manifestations of type II Gaucher's disease.
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2
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