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2016, Number 1

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Rev Hematol Mex 2016; 17 (1)

Gaucher’s disease: A report of a new mutation

Herrera-Olivares W, Castelan-Cruz O

Language: Spanish
References: 12
Page: 67-71
PDF size: 309.15 Kb.


ABSTRACT

Gaucher’s disease is the most common of lysosomal storage disorders. Autosomal recessive inheritance of a defective gene results in a deficiency of the lysosomal hydrolase cerebrosidase, which causes an abnormal accumulation of lipid glucocerebroside within cells, especially macrophages. We report the case of a 62-year-old female patient with clinical manifestations caused by splenomegaly and secondary cytopenias since adolescence, after complementary tests we concluded Gaucher’s disease, and gene sequencing showed a mutation in glucocerebrosidase gene not previously reported.


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