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  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Chromatography B: Biomedical Sciences and Applications 562 (1991), S. 481-492 
    ISSN: 0378-4347
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 67 (1989), S. 999-1003 
    ISSN: 1432-1440
    Keywords: A1 activator deficiency ; Glucosylceramide ; Neuronopathic Gaucher's disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A report is presented based on the biochemical and immunochemical studies of various tissues from a 15-year-old boy with a neuronopathic form of Gaucher's disease. Qualitative and quantitative lipid analyses revealed a storage of glucosylceramide. The striking feature was that, employing the usual assay methods, a normal activity of the lysosomal enzyme glucosylceramidase was revealed, despite massive lipid accumulation. Immunochemical assays of hepatic and splenic tissue extracts from this atypical Gaucher's patient disclosed the absence of A1 activator protein, which is necessary for the enzymic degradation of glucosylceramide in vivo. This is the second documented case of a patient presenting with glucosylceramide activator protein deficiency.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2072
    Keywords: Alpha Rhythm ; Hypnotics ; Psychogalvanic Reflex ; Reaction Time ; Sleep ; Time Estimation ; Vigilance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A procedure is described for the clinical assay of hypnotics and a comparative study of two drugs in humans: Hoe 264 (Hoechst) and heptobarbital (Medomin R) is reported. This procedure measures the changes in psychological, motor and autonomic responses, as well as the electrical activity of the CNS. Several variables were used including two for the measurement of the degree of vigilance: the sustained attention and a time-interval estimation. Another three variables were used for motor responses and electrical activity of the CNS: EEG, arm muscle contraction, and reaction time. In addition the following variables were used for the study of the changes on autonomic activity: pneumogram, EKG, galvanic skin resistance, and blood pressure. In our experimental conditions the hypnotic drugs were acting against an alertness state which could be measured objectively. This situation allows the detection of the slight variations which precede sleep, and permits the discrimination among at least three stages of consciousness: alertness, somnolence and sleep. The tested new drug (Hoe 264) can be considered as a non-toxic substance with hypnotic properties.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 14 (1991), S. 908-914 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A phenotypically normal mother of a mucopolysaccharidosis VII child, is reported with an unusually lowβ-glucuronidase activity. Low enzyme activity was systemic (6–10% of controls) and residualβ-glucuronidase in leukocytes had an apparently normalK m value. [35S]sulphate incorporation and chase assays in fibroblasts gave values similar to control cells. A normal excretion pattern of glycosaminoglycan was found in this woman's urine. Low enzymatic activity can be related to a non-pathological ‘pseudodeficiency’ allele forβ-glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII. Her next pregnancy was monitored by chorionic villus sampling and a heterozygous fetus was suspected. These studies stress the need for complete enzyme investigations of obligate carriers for mucopolysaccharidoses in order to prevent difficulties at prenatal analysis.
    Type of Medium: Electronic Resource
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