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>Journals >Revista de Hematología >Year 2016, Issue 1


Herrera-Olivares W, Castelan-Cruz O
Gaucher’s disease: A report of a new mutation
Rev Hematol Mex 2016; 17 (1)

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


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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.


Key words: Gaucher’s disease, splenomegaly, novel mutation.


REFERENCIAS

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>Journals >Revista de Hematología >Year 2016, Issue 1
 

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