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  • Articles: DFG German National Licenses  (3)
  • 1985-1989  (3)
  • Beta-galactosidase deficiency  (1)
  • HLA  (1)
  • Lactic acidosis  (1)
Source
  • Articles: DFG German National Licenses  (3)
Material
Years
  • 1985-1989  (3)
Year
  • 1
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes ; HLA ; auto-antibodies ; islet cell antibody
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary HLA phenotypes and haplotypes in relation to organ-specific autoantibody responses were studied in 82 Japanese patients with Type 1 (insulin-dependent) diabetes. HLA-DRw9 antigen and HLA phenotype of DRw9/X (X: not DR4) were increased in patients with organ-specific autoantibodies other than islet cell antibody (CP〈0.02, RR=4.02 and p〈0.05, RR=2.30, respectively); whereas HLA-DR4 antigen and HLA phenotype of DR4/X (X: not DRw9) were increased in those without the autoantibodies (CP〈0.001, RR=3.95 and p〈0.01, RR=2.46, respectively). HLA haplotype of Bw61-DRw9 was increased in patients with the autoantibodies (p〈0.005, RR=4.94), and HLA haplotype of Bw54-DR4 was increased in those without the autoantibodies (p〈0.001, RR=5.52). The relative risk of HLA-DR4/DRw9 was the highest among all HLA-DR phenotypes or genotypes in patients either with or without the autoantibodies. No association was, however, found between the incidence of islet cell antibody and HLA-DR phenotypes. These findings suggest that Type 1 diabetes among Japanese is immunogenetically heterogeneous as is Type 1 diabetes among Caucasians; and the differences in HLA-association of Type 1 diabetes among ethnic groups might give a clue to understanding of a role of HLA-antigens in the development of Type 1 diabetes.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 233 (1986), S. 306-308 
    ISSN: 1432-1459
    Keywords: Adrenoleukodystrophy ; Beta-galactosidase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1459
    Keywords: Mitochondrial myopathy ; Encephalopathy ; Lactic acidosis ; Coenzyme Q10 ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes [MELAS] who had normal mitochondrial enzyme activity, high doses of coenzyme Q10 (CoQ) were administered. Clinical improvement with decreased serum lactate and pyruvate levels was observed. Though the mechanism of action of CoQ is not known, a trial is worthwhile in patients with MELAS.
    Type of Medium: Electronic Resource
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