Words similar to gaucher

Example sentences for: gaucher

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For example, deficiencies of various enzymes responsible for lipid metabolism result in lipid accumulation in lysosomal storage diseases such as Niemann-Pick and Gaucher diseases [ 2 ] . Alternatively, modulation of lysosomal lumen pH may alter membrane trafficking and associated metabolic processes.
Type 1 Gaucher disease, the most common type, seems a particularly suitable target for enzyme replacement therapy because of the lack of central nervous system involvement (visceral damage in Gaucher disease is reversible whereas the brain damage usually is not).
A substantial proportion of disease alleles in Gaucher disease result from the introduction of mutations into the glucocerebrosidase gene from a tandemly repeated pseudogene (Tayebi et al.
The development of enzyme replacement therapy for Gaucher disease, that is, exogenous administration of the missing enzyme, is a triumph of translational medicine.
This profitability has served as a stimulus for the development of enzyme replacement treatments for diseases less common and generally less responsive to treatment than Gaucher disease.