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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
    Molecular cloning and chromosomal location of genes encoding the “Early-methionine-labelled” (Em) polypeptide of Triticum aestivum L. var. Chinese Spring (1990)
    Springer
    Theoretical and applied genetics 80 (1990), S. 43-48 
    Details
    ISSN: 1432-2242
    Keywords: Wheat ; Em genes ; Group 1 chromosomes ; RFLPs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The “Early-methionine-labelled” (Em) polypeptide is the most abundant cytosolic polypeptide found in mature wheat embryos. Using a near full-length cDNA clone as a hybridisation probe to detect genomic sequences by Southern blotting of electrophoretic separations of genomic DNA derived from Triticum aestivum L. var. Chinese Spring and a series of its aneuploid derivatives, we demonstrate that the Em polypeptide is the product of a small multigene family in which the copies are located on each of the long arms of the homoeologous group 1 chromosomes. Screening of a variety of genotypes additionally reveals a number of restriction fragment length polymorphisms associated with these loci. Screening of a library of genomic DNA cloned in the vector λEMBL 4 has resulted in the isolation of a genomic fragment containing two closely linked Em genes. These are separated by ca. 2.5 kb. Analysis of restriction enzyme digests of this clones fragment has identified it as originating from chromosome 1A.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00224014
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  • 5
    Electronic Resource
    Electronic Resource
    The isolation, characterization and application in the Triticeae of a set of wheat RFLP probes identifying each homoeologous chromosome arm (1989)
    Springer
    Theoretical and applied genetics 78 (1989), S. 342-348 
    Details
    ISSN: 1432-2242
    Keywords: Hexaploid wheat ; RFLPs ; Homoeology ; Chromosome arm ; Alien additions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary To investigate the use of RFLP analysis in the Triticeae, a set of low copy number probes has been isolated from a wheat cDNA library. The probes identify each of the 14 homoeologous chromosome arms of wheat as determined by analysis of DNA fragments hybridizing to the probes in aneuploid lines of Chinese Spring. These probes can be used in RFLP analyses both for the assignment of homoeology of alien chromosomes or arms added to wheat, and for the determination of chromosome dosage in wheat aneuploids. Different chromosomes from various Triticeae species can therefore be followed in a wheat genetic background using a single technique. The potential uses of the set in facilitating the transfer of alien segments into wheat are outlined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00265294
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  • 6
    Electronic Resource
    Electronic Resource
    Isozyme variation and RFLPs at the β-amylase loci in wheat (1988)
    Springer
    Theoretical and applied genetics 76 (1988), S. 691-699 
    Details
    ISSN: 1432-2242
    Keywords: Hexaploid wheat ; β-Amylase ; Isozymes ; RFLPs ; IEF
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Forty-one hexaploid wheat genotypes have been examined for RFLPs detected by a β-amylase probe using three restriction enzymes, and for mature grain β-amylase isozyme polymorphism following IEF. The two homoeoallelic series assayed for RFLPs differed: little variation was found at group 2 chromosome homoeoloci, while the group 4/5 chromosome homoeoloci displayed considerable variation. Varieties that displayed a RFLP with one RE almost always did likewise with the other two REs, suggesting that most of the polymorphisms observed were due to large DNA rearrangements. Comparison of the variation in grain β-amylase isozymes with the RFLP results indicated strong associations between particular RFLP and isozyme alleles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00303514
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  • 7
    Electronic Resource
    Electronic Resource
    RFLP-based genetic maps of wheat homoeologous group 7 chromosomes (1989)
    Springer
    Theoretical and applied genetics 78 (1989), S. 495-504 
    Details
    ISSN: 1432-2242
    Keywords: Wheat ; Genetic mapping ; RFLPs ; Isozymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Restriction fragment length polymorphism (RFLP) mapping was attempted using 18 cDNA clones, 14 anonymous and 4 of known function, which had been shown to have homologous DNA sequences on the group 7 chromosomes of wheat. The loci identified by these probes have been mapped on one or more chromosomes in this homoeologous group using linkage data derived from various F2, random inbred, doubled haploid and single chromosome recombinant populations. The maps also include three isozyme loci, five disease resistance loci, two anthocyanin pigment loci and a vernalisation response locus. The mapping data have been used to determine the extent of map co-linearity over the A, B and D genomes, the degree of RFLP variability in the three genomes and the relative efficiency of various restriction enzymes in detecting RFLPs in wheat. The strategy for future mapping in wheat, particularly the use of “alien” genomes or segments, such as that from Aegilops ventricosa used here, is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290833
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