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  • 1
    Electronic Resource
    Electronic Resource
    Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 791-804 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence. We studied a 37-year-old woman with tyrosinaemia I whose severe liver disease in infancy and rickets during childhood resolved with dietary therapy. From 14 years of age she resumed an unrestricted diet with the continued presence of the biochemical features of tyrosinaemia, yet maintained normal liver function. In adult years she accumulated only small amounts of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6−1g〉t, and a novel missense mutation, Q279R. Studies of resected liver demonstrated the absence of hydrolytic activity and of immunological expression of fumarylacetoacetate hydrolase in liver tumour. In nontumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase was found. This case demonstrates the high risk of liver cancer in tyrosinaemia I even in a seemingly favourable biological environment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1026756501669
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Thermal Diffusivity Measurement of Two-Layer Optical Thin-Film Systems Using Photoacoustic Effect1 (2000)
    Springer
    International journal of thermophysics 21 (2000), S. 543-552 
    Details
    ISSN: 1572-9567
    Keywords: antireflection coating ; parameter estimation ; photoacoustic effect ; thermal diffusivity ; through-plane
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract In this study, we designed and developed two-layer antireflection (AR) optical coating samples on glass substrates, using different evaporation conditions of coating rates and substrate temperatures for two dielectric materials, MgF2 and ZnS, with different refractive indices. The through-plane thermal diffusivity of these systems was measured using the photoacoustic effect. The optical thicknesses of MgF2 and ZnS layers were fixed at 5λ/4 (λ=514.5 nm) and λ, respectively, and the thermal diffusivities of the samples were obtained from the measured amplitude of the photoacoustic signals by changing the chopping frequency of the Ar+ laser beam. The results demonstrated that the thermal diffusivity of the sample fabricated under the conditions of 10μÅ·s−1 and 150°C had the maximum value and that the results were directly related to the microstructure of the film system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006612403028
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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