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  • 1
    Electronic Resource
    Electronic Resource
    Timing of tRNA and 5S rRNA gene replication in Tetrahymena pyriformis
    Amsterdam : Elsevier
    Experimental Cell Research 106 (1977), S. 408-412 
    Details
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-4827(77)90191-4
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  • 2
    Electronic Resource
    Electronic Resource
    Evidence for existence of messenger ribonucleoprotein complexes in Tetrahymena pyriformis
    Amsterdam : Elsevier
    Experimental Cell Research 76 (1973), S. 273-280 
    Details
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-4827(73)90377-7
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Isolation of two small molecular weight RNA components by MAK column chromatography
    Amsterdam : Elsevier
    Archives of Biochemistry and Biophysics 142 (1971), S. 238-246 
    Details
    ISSN: 0003-9861
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-9861(71)90280-3
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Injuries related to the aspects of shift working - A comparison of different offshore shift arrangements
    Amsterdam : Elsevier
    Journal of Occupational Accidents 12 (1990), S. 167-176 
    Details
    ISSN: 0376-6349
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Technology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0376-6349(90)90095-D
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 212-216 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fibroblast cultures from 49 possible Hunter disease carriers were collected. These cultures were analysed for the incorporation of 35S-sulphate into acid mucopolysaccharides in the presence and the absence of fructose 1-phosphate. For 10 of these women more than one abnormal result was observed, when two or three cultures from each individual were tested. For six additional women only one abnormal result was found, when three cultures for each of these females were analysed. The implication that just one abnormal result indicates carriership stems from the observation that 24 out of 25 obligate carriers have been confirmed by this criterion (Tønnesen et al. 1983). By mean of the same criterion we have thus established carriership for 16 possible carriers. From genetic inference three additional carriers were found among the females showing normal results in the fibroblast cultures. As a test of the reliability of the method, analyses of the tested informative female offspring of Hunter carriers showed 20 of 38 informative females to be carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286603
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 371-375 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pulse-chase experiments measuring 35S-sulphate incorporation into acid mucopolysaccharides were performed in the presence and absence of fructose 1-phosphate on fibroblasts obtained from one skin-biopsy of 25 obligate Hunter carriers. The presence of fructose 1-phosphate significantly increased the accumulation of 35S-labelled acid mucopolysaccharides in fibroblast cultures of 23 obligate Hunter carriers. In one carrier, the accumulation of labelled acid mucopolysaccharides was significantly increased prior to the addition of fructose 1-phosphate, and in one of the 25 obligate carriers the 35S-sulphate incorporation was normal in the presence as well as in the absence of fructose 1-phosphate. Similar experiments performed on mixtures of Hunter cells and normal cells revealed that 20% Hunter cells should be present to obtain a significantly increased difference in between the incroporation in the presence and in the absence of fructose 1-phosphate. Fructose 1-phosphate had no effect on the accumulation of labelled mucopolysaccharides in fibroblast-cultures of seven women with no family history of mucopolysaccharidosis. The present results show that pulse-chase experiments measuring 35S-sulphate incorporation into fibroblasts, cultured in the presence of fructose 1-phosphate, can identify Hunter carriership, provided that the accumulation is normal prior to the addition of fructose 1-phosphate. Furthermore, 35S-sulphate incorporation in the absence of fructose 1-phosphate, higher than mean +4 SD of normal control-fibroblasts indicates carriership.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292369
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  • 7
    Electronic Resource
    Electronic Resource
    Incidence of Menkes disease (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 408-410 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254000 live-born babies. This incidence, which is 2–4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 × 10−6, based on the number of isolated Menkes cases born during the time period 1976–87 and the total number of newborn males during this time.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201846
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 572-575 
    Details
    ISSN: 1432-1076
    Keywords: Hunter syndrome ; α1-antitrypsin deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The chance coincidence of an X-linked disorder with an autosomal recessive disorder in one child is described. The child had the clinical phenotype of a mucopolysaccharidosis and the activity of iduronate sulphatase was almost absent. Furthermore, fibroblasts from a typical Hunter patient were unable to correct the patient's fibroblasts. However, three 24 h urine samples collected at 18–36 months of age showed a nearly normal excretion of acid mucopolysaccharides. The boy died in liver coma at 3 years of age. Autopsy showed cirrhosis of the liver and changes in liver tissue consistent with α1-antitrypsin deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429071
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  • 9
    Electronic Resource
    Electronic Resource
    Clinical and biochemical consequences of copper-histidine therapy in Menkes disease (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 828-832 
    Details
    ISSN: 1432-1076
    Keywords: Menkes disease ; Copper treatment ; d-Penicillamine ; Dopamine-β-hydroxylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent enzymes. Limited experience has been reported concerning clinical and biochemical consequences of parenteral treatment with copper-(histidine)2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old boy with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The excessive dopamine level in CSF was corrected after 3 months of treatment. After 6 weeks of Cu supplementation, complete reduction of epileptic discharges, improved muscular tone and increased motor activities were observed. Developmental regression stopped and was replaced by a slight progression. Death at the age of 19 months was caused by septicaemia due to a fulminant urinary tract infection; there was no evidence of chronic Cu toxicity. These findings suggest that Cu-His supplementation may be a promising palliative treatment in MD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073380
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Variability in clinical expression of Menkes syndrome (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 132-135 
    Details
    ISSN: 1432-1076
    Keywords: Menkes syndrome ; Genetic heterogeneity ; Copper therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups:one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445920
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