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- W15250259 abstract "Abstract Summary: Extensive clinical heterogeneity is seen in lysosomal storage disorders, regarding the age of onset and severity of symptoms, the organs involved, and effects on the central nervous system. A broad phenotypic spectrum is seen, for example, in mucopolysaccharidosis type I (Hurler/Scheie disease), Gaucher disease, the severalforms of GM2‐gangliosidosis and the different manifestations of β‐galactosidasedeficiency (GM1‐gangliosidosis and Morquio disease type B). Variable clinical expression of the same enzyme defect is not well understood. The presence of different mutations is only part of the explanation, as intrafamilial variability is observed in many cases. Other mechanisms, for example the effect of specific activators, may also have an influence on phenotype." @default.
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- W15250259 date "2001-04-01" @default.
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- W15250259 title "Variable clinical presentation in lysosomal storage disorders" @default.
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- W15250259 doi "https://doi.org/10.1023/a:1012463605992" @default.
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