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Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose. On the basis of residual GALT activity, Type I galactosemia is classified into severe “Classical” and mild “Duarte” phenotypes....
Bovine spongiform encephalopathy (BSE) is a neurodegenerative prion protein misfolding disorder of cattle. BSE is of two types, classical BSE and atypical BSE which in turn is of two types, H-type BSE and L-type BSE. Both H-type BSE and L-type BSE are primarily sporadic prion disorders. However, one case of H-type BSE has recently been associated with E211K polymorphism in the prion protein gene (PRNP)...
Prion diseases are neurodegenerative conditions caused by misfolding of a normal host-encoded prion protein (PrP C ) into pathogenic scrapie prion protein (PrP Sc ). In human prion diseases, the M129V prion protein polymorphism is known to confer susceptibility to the disease, determines PrP Sc conformation and alters clinicopathological phenotypes. To date, all clinicopathologically...
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