Case report: Gaucher disease in trepanobiopsy of 16yo woman examined for suspected myelodysplastic syndrome
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Gaucher disease is an autosomal recessive disease belonging to the so-called storage diseases. More than 300 mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme are known. It is a very rare disease in the Czech Republic. Currently 35 patie... ...
