The Biochemical Differentiation between Heterozygote Carriers of Metachromatic Leucodystrophy and Normal Persons

β‐Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1‐gangIiosidosis

“…For the assay of @-galactosidase, both o-nitrophenyl-0-D-galactopyranoside and 4methylumbelliferyl-p-D-galactopyranoside were used. Arylsulphatase was measured according to Gabreels et al (1971). The protein content of the fibroblasts and leucocytes was measured according to Lowry et al (1951).…”

A preclinical case of late adult metachromatic leukodystrophy?: Manifestation only with lipid abnormalities in urine, enzyme deficiency, and decrease of nerve conduction velocity

“…We are, therefore, of the opinion that we are dealing with a case of late adult ML, which has been discovered before the onset of the first subjective disorders, and that further symptoms of the disease will develop in the future. Although the paper of Austin dealing with an increased excretion of metachromatic substances (Austin, 1957) and an arylsulphatase A deficiency in the urine (Austin et al, 1966) of patients with ML has made it possible to recognize the disease early, only two preclinical cases of late infantile metachromatic leukodystrophy have been described until now (Greene, Hug, and Schubert, 1967;Gabreels, Lamers, Kok, Loonen, and Lommen, 1971).…”