...J. J. Hopwood; Vivienne Muller 1. Homogenates of cultured skin fibroblasts derived from patients with α-l-iduronidase-deficiency disorders (Hurler and Scheie syndromes) were capable of hydrolysing iduronosyl anhydro-[l- 3 H]mannitol 6-sulphate although at considerably reduced rates compared...

... 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...