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  • 1
    Electronic Resource
    Electronic Resource
    Sanfilippo type D disease: Clinical findings in two patients with a new variant of mucopolysaccharidosis III (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 168-171 
    Details
    ISSN: 1432-1076
    Keywords: Mucopolysaccharidoses ; Sanfilippo D disease ; N-acetylglucosamine-6-sulfate sulfatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A fourth genetic subtype of the Sanfilippo syndrome due to a deficiency of N-acetylglucosamine-6-sulfate sulfatase which is required for heparan sulfate degradation has recently been described. The clinical findings of two patients with a deficiency of this enzyme are reported here. Differential diagnosis from the other types of the Sanfilippo syndrome cannot be made by clinical criteria, but rests on specific enzyme assays. Since patients of either sex are known and consanguinity was present in one case, autosomal recessive inheritance is most probable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441147
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Etude de la couche limite convective sahelienne en presence de brumes seches (Expérience ECLATS) (1984)
    Springer
    Boundary layer meteorology 28 (1984), S. 51-77 
    Details
    ISSN: 1573-1472
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences , Physics
    Notes: Abstract The ECLATS experiment was conducted in order to investigate the influence of radiative processes on the dynamics of the atmospheric boundary layer during its diurnal evolution. This experiment was carried out over Niger, near Niamey, by measuring continuously the energy balance at ground level and by using an instrumented aircraft for turbulence, radiative fluxes and aerosol measurements in the boundary layer during dusty conditions (‘brumes sèches’). This paper is restricted to an analysis of the turbulent structure in the homogeneous and stationary convective boundary layer. The turbulence moments for kinetic energy and the spectral characteristics of the vertical velocity are discussed. These results are compared with a set of data obtained for clear convective boundary layers. The differences observed are quite important and seem, at least in part, due to radiative processes (infrared radiative divergence in the surface layer and absorption of solar radiation in the boundary layer).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00119456
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency (1982)
    Springer
    Journal of inherited metabolic disease 5 (1982), S. 218-224 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A female patient of Italian, non-Jewish, descent, 22 years of age, with cloudy corneae, capsular lens opacities and severe and progressive mental and motor deterioration is described. Ultrastructural examination of a skin biopsy sample showed storage of membranous cytoplasmic bodies in Schwann cells, vessel walls, fibroblasts, smooth muscle fibres and sweat glands, and the presence of some electron-lucent vacuoles, filled with fibrillo-granular material, in sweat glands. Biochemical analysis of cultured fibroblasts (from skin explant) showed a complete deficiency of the sialidase acting on gangliosides, while the sialidase acting on sialyllactose and MU-NeuAc, and several lysomal hydrolases were normal. The urine sediment analysis showed accumulation of all phospholipid species, of several glycolipids and of gangliosides, especially of the polysialylated species. We conclude that the patient under examination is affected by Mucolipidosis IV and the term ‘sialolipidosis’ is suggested for this inborn disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02179146
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    Paper (German National Licenses)
    Fulltext
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