... and Scheie syndromes result from different allelic mutations. 15 1 1979 1 5 1979 © 1979 The Biochemical Society and the Medical Research Society 1979 biochemical discrimination Hurler syndrome α-l-iduronidase Scheie syndrome Clinical Science (1979) 57,265-272 Biochemical...

... in fibroblasts derived from the propositus, mother and normal controls with the kinetics of the enzyme in amniotic cells isolated from the foetus at risk and from normal controls. heterozygote detection Hurler syndrome α-l-iduronidase prenatal diagnosis radio-labelled natural substrate Scheie syndrome...