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  • 1
    Electronic Resource
    Electronic Resource
    Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 133-142 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Phytanic acid ; Dietary treatment ; Peroxisomes ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26∶C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26∶C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442210
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  • 2
    Electronic Resource
    Electronic Resource
    Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 143-147 
    Details
    ISSN: 1432-1076
    Keywords: Pristanic acid ; Phytanic acid ; Peroxisome ; β-oxidation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its α-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the α-oxidation of phytanic acid, but is indicative of a block in the peroxisomal β-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442211
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  • 3
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 507-510 
    Details
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Prenatal diagnosis ; Phytanic acid ; Amniocytes ; Chorionic villous cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429053
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  • 4
    Electronic Resource
    Electronic Resource
    Heterosis × nutrition interaction in Drosophila melanogaster (1988)
    Springer
    Theoretical and applied genetics 76 (1988), S. 136-142 
    Details
    ISSN: 1432-2242
    Keywords: Drosophila melanogaster ; Genotype × Environment interaction ; Heterosis ; Epistasis ; Electrophoresis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The relationship between heterozygosity and the expression of heterosis at two different nutrition levels was investigated using Drosophila melanogaster. Average daily egg production and egg hatchability were measured in two parental strains and in F1, F2 and reciprocal backcross generations. Heterosis was more pronounced in the poor nutritional conditions. Two electrophoretic markers used to estimate the level of heterozygosity in F2 and backcrosses revealed an excess of heterozygous genotypes. Quantitative genetic effects (an additive line effect and individual and maternal heterosis) were estimated for both traits in the two environments. Although this model gave a reasonable fit in most cases, some epistatic interaction would have to be invoked in order to explain fully the results.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00288844
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  • 5
    Electronic Resource
    Electronic Resource
    A storage-protein marker associated with the suppressor of Pm8 for powdery mildew resistance in wheat (1996)
    Springer
    Theoretical and applied genetics 93 (1996), S. 1054-1060 
    Details
    ISSN: 1432-2242
    Keywords: Key wordsTriticum aestivum ; Rye ; Secale cereale ; 1BL.1RS translocation ; 1AL.1RS translocation ; Gliadin ; Electrophoresis ; Erysiphe graminis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A suppressor of resistance to powdery mildew conferred by Pm8 showed complete association with the presence of a storage-protein marker resolved by electrophoresis on SDS-PAGE gels. This marker was identified as the product of the gliadin allele Gli-A1a. The mildew-response phenotypes of wheats possessing the 1BL.1RS translocation were completely predictable from electrophoretograms. The suppressor, designated SuPm8, was located on chromosome 1AS. It was specific in its suppression of Pm8, and did not affect the rye-derived resistance phenotypes of wheat lines with Pm17, also located in 1RS, or of lines with Pm7.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050334
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    Paper (German National Licenses)
    Fulltext
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