these kinetic , immunologic , and thermostability studies indicated that 1 ) type 1 gaucher disease is biochemically heterogeneous and results from at least four distinct allelic acid beta-glucosidase mutations that alter enzyme structure and/or function , 2 ) neuronopathic and non-jewish non-neuronopathic phenotypes can not be distinguished reliably by kinetic analyses alone , and 3 ) the ashkenazi type 1 gaucher disease results from a unique mutation that alters a specific active site domain of acid beta-glucosidase .
C0017768
acid
C0017764
glucosidase