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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    ISSN: 1432-1076
    Keywords: Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl with untreated idiopathic hypoparathyroidism presented with muscle weakness, depressed tendonreflexes and elevated serum creatine kinase. No morphological alterations of skeletal muscle or inhibition of muscle phosphorylase could be demonstrated. It is suggested that the myopathic symptoms may be due to functional changes of the muscle membrane during hypocalcemia.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. 550-554 
    ISSN: 1432-1076
    Keywords: Epilepsy ; Genetics ; Myoclonic-astatic seizures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper presents case reports of patients suffering from myoclonic-astatic and stimulus-sensitive myoclonic seizures, respectively. It gives details of clinical and EEG data in the pertinent families. This is discussed in the context of controversial nosographic concepts of epilepsies with myoclonic seizures, and of the results of extensive family investigations. The findings demonstrate the decisive importance of hereditary factors in the pathogenesis of myoclonic and myoclonic-astatic epilepsy, the genetic background of which is probably polygenic.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1989), S. 152-158 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The main clinical and bioelectrical features of the benign partial epilepsies and related conditions are described. Based on highly selected groups, the definition of these suggested syndromes disregards the considerable overlap between borderline and intermediate cases. To understand the great phenotypic variability of these epilepsies, the complexity of causal especially genetic factors must be considered. Different genetic traits, expressed in certain EEG patterns, determine the level of cerebral excitability. These hereditary variables are widespread in the general population. Most are polygenic, focal sharp waves possibly autosomal dominant. In individuals, the coincidence of different traits with little or no clinical significance, results in additive effects lowering the seizure threshold and raising the risk of clinical manifestation. The complexity of causal factors, which, potentially include organic brain lesions, account for the wide spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to complex psychomental retardation, and from simple rolandic epilepsy to severe epilepsies with minor seizures or bioelectrical status. These conditions are not “syndromes” in the stricter sense, but sets of variably weighted symptoms of a complex pathogenetic background. A genetic disposition to focal anomalies of brain function is of decisive importance. The biological background is as of yet unknown. The marked agedependency of symptoms and almost regular disappearence of seizures and EEG abnormalities at puberty justify the assumption of an hereditary impairment of brain maturation. The hypothesis of autosomal dominant inheritance awaits appraisal by studies of larger populations and quantitative genetic approaches.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 41 (1983), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: In one 21-week-old fetus with prenatally diagnosed metachromatic leukodystrophy, galactolipid contents were determined in the forebrain cortex, cerebellum, brainstem, spinal cord, and kidney and compared to an appropriate control. Spinal cord and kidney showed the highest sulfatide accumulation as a consequence of deficient cerebroside sulfatase activity. No increase, but a measurable amount of sulfatide, was detected in the forebrain. The prenatal neural sulfatides contained a high proportion of the hydroxy fatty acid component. The galactosyl ceramides were not reduced in the early stage of the demyelinating disease.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Nutrition 20 (2000), S. 699-722 
    ISSN: 0199-9885
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Abstract Research on human milk oligosaccharides (HMOs) has received much attention in recent years. However, it started about a century ago with the observation that oligosaccharides might be growth factors for a so-called bifidus flora in breast-fed infants and extends to the recent finding of cell adhesion molecules in human milk. The latter are involved in inflammatory events recognizing carbohydrate sequences that also can be found in human milk. The similarities between epithelial cell surface carbohydrates and oligosaccharides in human milk strengthen the idea that specific interactions of those oligosaccharides with pathogenic microorganisms do occur preventing the attachment of microbes to epithelial cells. HMOs may act as soluble receptors for different pathogens, thus increasing the resistance of breast-fed infants. However, we need to know more about the metabolism of oligosaccharides in the gastrointestinal tract. How far are oligosaccharides degraded by intestinal enzymes and does oligosaccharide processing (e.g. degradation, synthesis, and elongation of core structures) occur in intestinal epithelial cells? Further research on HMOs is certainly needed to increase our knowledge of infant nutrition as it is affected by complex oligosaccharides.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Industrial & engineering chemistry 33 (1941), S. 287-291 
    ISSN: 1520-5045
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Industrial & engineering chemistry 34 (1942), S. 182-182 
    ISSN: 1520-5045
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Industrial and engineering chemistry 11 (1939), S. 447-449 
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 0014-5793
    Keywords: High-performance liquid chromatography ; Immunopurification ; Insulin-like growth factor ; Monoclonal antibody ; Radioimmunoassay ; Somatomedin
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    International journal of biometeorology 17 (1973), S. 311-312 
    ISSN: 1432-1254
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geography , Physics
    Type of Medium: Electronic Resource
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