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  • Polymer and Materials Science  (3)
  • Multiple carboxylase deficiency  (2)
  • 1
    ISSN: 1432-1076
    Keywords: Key words Biotin ; Holocarboxylase synthetase ; Multiple carboxylase deficiency ; Splice error
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Holocarboxylase synthetase (HCS) deficiency is a disorder of biotin metabolism characterised by metabolic ketoacidosis and skin lesions due to reduced activities of multiple biotin-dependent carboxylases. The onset of this disease is usually between the neonatal and infantile period. Here we report the molecular analysis of an atypical case of HCS deficiency, where the patient developed his first episode of acidosis at age 8 years and had an exceptionally slow response to biotin therapy. A homozygous mutation was identified at the +5 position of the splice donor site in intron 10 of the HCS gene (IVs10 + 5(g → a)), resulting in abnormal splicing of HCS mRNA. A moderate decrease in the amount of normal HCS mRNA may account for the atypical, late-onset phenotype of this patient. Conclusion Molecular analysis is a useful tool for understanding the phenotypic variations in holocarboxylase synthetase deficiency.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: Key words Holocarboxylase synthetase ; Multiple carboxylase deficiency ; Biotin ; Mutation ; Microsatellite markers ; Haplotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Holocarboxylase synthetase (HCS) deficiency is a rare autosomal recessive disorder of biotin metabolism. Including three new Japanese patients we diagnosed in this study, ten Japanese families have, so far, been accumulated. In these families, the mutations 237Leu 〉 Pro (sevenalleles) and 1067delG (five alleles) were predominant; 508Arg 〉 Trp and 550Val 〉 Met mutations were identified in three families in the heterozygous form and in one patient in the homozygous form, respectively. To determine the origin of these mutations, we identified new polymorphic microsatellite markers in the HCS gene and analyzed the haplotypes of the patients. All the 237Leu 〉 Pro and the 1067delG alleles were associated with haplotype 2-2. This finding is consistent with the notion that these mutations are founder mutations in the Japanese population. Three Japanese 508Arg 〉 Trp alleles were associated with several haplotypes, including 2-3 and 1-4. The haplotype of a Taiwanese patient homozygous for the 508Arg 〉 Trp mutation was 2-3/2-3. The haplotype of one Japanese patient homozygous for the 550Val 〉 Met mutation was 1-4/1-4, whereas that of a Jewish patient with the same homozygous mutation was 2-3/2-3. Both mutations were associated with at least two haplotypes and were found in several ethnic groups. The changes 508Arg 〉 Trp and 550Val 〉 Met occurred at CpG dinucleotide. The data suggest that these two mutations represent a mutational hot-spot.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Journal of Applied Polymer Science 20 (1976), S. 2879-2892 
    ISSN: 0021-8995
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: The β-relaxation in polycarbonate has been investigated by the thermally stimulated discharge current (TSC) technique. The polarization of the β-peak in polycarbonate is shown to be uniform. Two broad peaks centered at 130° and 200°K were observed. Furthermore, two single relaxation processes were resolved for the lower temperature peak. The high temperature peak was also resolved into two peaks, however, only one of them was a single relaxation process. The individual peaks satisfied the dipolar theory, and the three peaks are associated with activation energies of 0.24, 0.27, and 0.47 eV, and temperatures of the peak maxima were 121°, 131°, and 193°K, respectively. The mechanism attributed to each peak is discussed and does not appear to contradict the results of conventional dielectric and mechanical relaxation and NMR measurements on the β-relaxation in polycarbonate.
    Additional Material: 11 Ill.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    New York : Wiley-Blackwell
    Journal of Polymer Science: Polymer Physics Edition 15 (1977), S. 199-210 
    ISSN: 0098-1273
    Keywords: Physics ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: It is well known that polycarbonate annealed at 80-130°C undergoes gradual changes in mechanical properties. Annealing below Tg (ca. 150°C) results in a decrease in impact resistance and an increase in strength. Polycarbonate has three single relaxation processes and some distributed relaxation processes in the temperature range between 100 and 250°K (the β transition region). The effect of thermal pretreatment on the relaxation has been investigated by the thermally stimulated discharge current technique. Partial heating, peak cleaning, and theoretical fitting have also been performed and the activation parameters associated with the relaxation processes have also been calculated to assist in the analysis of the relationship between effects of annealing and structural motions in polycarbonate.
    Additional Material: 9 Ill.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    New York : Wiley-Blackwell
    Journal of Polymer Science: Polymer Physics Edition 14 (1976), S. 1297-1304 
    ISSN: 0098-1273
    Keywords: Physics ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: Dielectric relaxation measurements at very low frequency were carried out on polycarbonate. Two prominent peaks were resolved from the broad β-relaxation peak with activation energies of 0.28 and 0.52 eV, respectively. Thermally stimulated discharge current was also studied and compared to the results obtained from the dielectric relaxation measurements.
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
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