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- W2023511296 abstract "Gaucher disease results from an inherited deficiency of the lysosomal enzyme glucocerebrosidase and the subsequent accumulation of glucocerebroside in macrophages. This produces systemic problems. Traditionally, Gaucher disease has been classified in three clinically defined types. Type 1 involves no primary neurologic involvement. Type 2 is the acute neuropathic form. These patients have progressive brain stem dysfunction leading to death. Type 3 is a chronically progressive form presently between infancy and adolescence. This has a broad range of phenotypic presentation. In this issue of The Journal, Goker-Alpan et al describe nine patients with a phenotype that is intermediate between types 2 and 3. These children had a delayed age of onset but had rapidly progressive neurologic abnormalities. There was genotypic heterogeneity among these patients, which suggests more of a continuum of phenotype rather than discrete types. This makes the discussion regarding prognosis and the potential need for therapy more complicated. Page 273" @default.
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- W2023511296 title "A continuum of phenotypes in Gaucher disease" @default.
- W2023511296 doi "https://doi.org/10.1067/s0022-3476(03)00464-5" @default.
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