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4-Methylumbelliferyl-alpha-D-N-sulphoglucosaminide (MU-alpha-GlcNS) was synthesized and shown to be a substrate for the lysosomal heparin sulphamidase. Sanfilippo A patients' fibroblasts (n = 42) and lymphocytes (n = 1) showed 0-3% of mean normal heparin sulphamidase activity; in total leukocytes from patients (n = 8) sulphamidase activity was clearly(More)
Both the alpha- and beta-anomers of 4-methylumbelliferyl-D-glucosaminide were synthesized and shown to be substrates for the lysosomal acetyl-CoA:glucosaminide N-acetyltransferase. Using the beta-anomer, fibroblasts and leukocytes from 11 different Sanfilippo C patients showed < 1% of mean normal N-acetyltransferase activity. Heterozygotes showed(More)
We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphamidase and an added yeast enzyme preparation which(More)
A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including an enzyme assay, the analysis of(More)
Analysing terms of occupational respiratory dust diseases formation proved that length of service under exposure to chrysotile-asbestos aerosols, which is according to prognosis associated with final development of dust diseases in half of the examinees, is 33.55 years. Dynamics of final diagnostic criteria formation for occupational disease in relation to(More)
A disturbance of postural control is one of the most invalidating symptoms of Parkinson's disease (PD), and mechanisms underlying its development have not been so far elucidated. To specify the postural control features in different PD forms, clinico-neurophysiological analysis was conducted in 61 patients divided into 3 groups according to PD forms:(More)
A simple quantitative procedure is described for estimation of nonenzymatically glycosylated hemoglobin (HbAIc) in blood, which involved acid hydrolysis of hemoglobin in trichloracetic acid with heating. The liberated fructose was measured by development of colour complex of 5-hydroxymethyl furfurol (produced from fructose in acid solution) and(More)
Fourteen members of family P. and four members of family N. were clinico-biochemically examined. Among twelve adult children (19-32 years old) of family P. five sons manifested angiokeratotic skin lesions and other clinical signs of Fabry disease. Three of the probands had additional symptoms not generally found in Fabry disease. Biochemical studies(More)
The results of mirapex (pramipexol) treatment of 402 patients with Parkinson's disease and juvenile parkinsonism during the period from 6 months to 7 years are summarized. Mirapex was used in monotherapy as well as in combination with levadopa and other antiparkinsonic drugs. The drug was well tolerated and effective in rest tremor, hypokinesia, muscle(More)