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  • Chemistry  (2)
  • Susceptibility gene variations  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S213 
    Details
    ISSN: 1432-1076
    Keywords: Key words Fatty acid oxidation defects ; Medium-chain acyl-CoA dehydrogenase deficiency ; Mutation analysis ; Short-chain acyl-CoA dehydrogenase deficiency ; Susceptibility gene variations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation: the medium-chain acyl-CoA dehydrogenase (MCAD) gene; the short-chain acyl-CoA dehydrogenase (SCAD) gene; the long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) gene and the carnitine-palmitoyl-CoA transferase II (CPT II) gene. In MCAD deficiency the analysis confirms the conventional wisdom that individuals carrying the prevalent 985A〉G mutation are at risk of developing life-threatening attacks. In SCAD/ethylmalonic aciduria, on the other hand, the presence of the prevalent susceptibility variations, 625A and 511T, in the SCAD gene seems to require additional genetic and cellular factors to be present in order to result in a phenotype. For the prevalent mutations in the LCHAD and CPT II genes further data are needed to evaluate the penetrance and risk of manifest disease when carrying these mutations. Conclusion Assessment of the prevalence of a prevalent mutation in the mutation spectrum of the disease in question and determination of the carrier frequency in the general population may help in elucidating the penetrance of the genotype. This is exemplified in disorders of mitochondrial fatty acid oxidation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014406
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Gas chromatographic mass spectrometric identification of N-dicarboxylmonoglycines (1978)
    Chichester : Wiley-Blackwell
    Biological Mass Spectrometry 5 (1978), S. 80-83 
    Details
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: A number of N-dicarboxylmonoglycines of biological interest have been synthesized. They were characterized by means of mass spectrometry. Gas chromatography of the methyl esters of methylmalonyl-, succinyl-, glutaryl-, adipyl-, suberyl- and sebacylglycines showed a single sharp peak for each compound on Dexsil 300 and OV 17 columns. Methylene unit values and mass spectra of the six methyl esters are reported.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/bms.1200050115
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    N-acylglycines: Gas chromatographic mass spectrometric identification and determination in urine by selected ion monitoring (1979)
    Chichester : Wiley-Blackwell
    Biological Mass Spectrometry 6 (1979), S. 439-443 
    Details
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Eleven biologically interesting N-acylglycines have been synthesized and the gas chromatographic and mass spectrometric properties of their trimethylsilyl derivatives studied. A sharp and reproducible gas chromatographic peak could be obtained for each N-acylglycine as the N, O-bis-(trimethylsilyl)-N-acylglycine. By the use of these derivatives a sensitive and specific selected ion monitoring method for the determination of N-acylglycines in human urine has been developed.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/bms.1200061007
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    Paper (German National Licenses)
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