Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period.

@article{Hopwood1982EnzymaticDO,
  title={Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period.},
  author={John J. Hopwood and Volker Muller and J. Rodney Harrison and William F. Carey and Haley Elliott and Evelyn F Robertson and Annabel C Pollard},
  journal={The Medical journal of Australia},
  year={1982},
  volume={1 6},
  pages={257-60}
}
We assessed lysosomal exohydrolase activities in homogenates of cultured skin fibroblasts and peripheral blood leucocytes of approximately 550 patients referred from throughout Australasia and suspected of having a mucopolysaccharidosis. Of these, 96 patients from 80 families were diagnosed as being homozygous deficient for a particular lysosomal enzyme… CONTINUE READING