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- W2072934469 abstract "Gaucher disease (GD) is an autosomal recessive genetic disease and the most common lysosomal disease. This metabolic disorder is caused by a deficiency of the lysosomal enzyme glucocerebrosidase, and as a result, the lipid substrate glucosylceramide is degraded much more slowly than in normal cells and accumulates intracellularly, primarily in cells of mononuclear phagocyte origin.1 The glucosylceramide-laden macrophages, also known as “Gaucher cells,” are the classical hallmark of the disease. GD is classified into 3 phenotypic categories; type I, also referred to as adult or nonneuronopathic GD, is the most common type (≥90%),2 characterized by the presence of visceral involvement, bone disease, and hematologic abnormalities, and the absence of significant neurological impairment." @default.
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- W2072934469 date "2015-07-01" @default.
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- W2072934469 title "Successful rapid desensitization to imiglucerase in an adult patient with Gaucher disease and documented IgE-mediated hypersensitivity" @default.
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- W2072934469 doi "https://doi.org/10.1016/j.jaip.2014.11.013" @default.
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