Phenotypes

This was one of the first inherited lysosomal storage disorders to be studied extensively in animals. The pioneering work was done by Jolly and colleagues at Massy University in New Zealand, who developed an enzyme assay that enabled carriers to be distinguished from homozygote normals with a high degree of accuracy (Jolly et al., 1973). More than twenty years later, following the cloning and characterisation of the human gene for alpha mannos...