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- W2024145365 abstract "Gaucher's disease, the most common lysosomal storage disorder, arises from mutations in the gene encoding glucocerebrosidase. The glucocerebrosidase enzyme, which cleaves glucose from ceramide, is markedly reduced or absent. This results in accumulation of glucocerebroside, primarily in phagocytic cells. Of the various subtypes, the most common form, accounting for up to 99% of cases, is that of type I, or the chronic non-neuronopathic form. The disease is inherited in an autosomal recessive fashion, manifests in adulthood with splenic and skeletal involvement, and occurs predominantly in the Ashkenazi Jewish population. Clinical features include pathological fractures as well as cytopenia(s) caused by hypersplenism. The diagnosis is generally made by cytomorphologic examination of the bone marrow, and confirmed by measurement of glucocerebrosidase activity in peripheral blood leucocytes or cultured skin fibroblasts. Gaucher's cells show diffuse and avid iron staining using a Prussian blue iron stain (left, Prussian blue stain with Wright–Giemsa inset), in contrast to normal bone marrow histiocytes or pseudo-Gaucher histiocytes associated with chronic myeloproliferative disorders such as chronic myeloid leukaemia (right, Prussian blue stain with Wright–Giemsa inset). This was determined over a generation ago to be probably due to phagocytosed erythrocytes. The current generation of haematologists and pathologists need to be aware of this phenomenon. Any histiocyte with diffuse iron uptake should be considered as highly suspicious for Gaucher's disease, and an appropriate clinical work-up should be instituted." @default.
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- W2024145365 date "2004-02-02" @default.
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- W2024145365 title "Cytochemical diagnosis of Gaucher's disease by iron stain" @default.
- W2024145365 doi "https://doi.org/10.1046/j.1365-2141.2003.04695.x" @default.
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