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Quantitative Bestimmung und Phänotypisierung des Cäruloplasmins bei Morbus Wilson

Quantitative determination and phenotyping of ceruloplasmin in morbus wilson

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Summary

Sera of 17 patients with Wilson's disease and of 48 relatives were investigated as to a possible correlation between ceruloplasmin phenotypes and Wilson's disease. The control group included 727 healthy subjects. The results of the quantitative determination of ceruloplasmin confirmed the overlapping in the groups of so-called heterozygotes and controls known from the literature. The ceruloplasmin phenotypes in starch gel electrophoresis we observed were of the most common phenotype Cp BB in the patients as well as in the controls. Therefore, patients with Wilson's disease also show the normal Cp-phenotypes.

Zusammenfassung

Es wurden Seren von 17 Patienten mit Wilsonscher Krankheit und von 48 ihrer Verwandten im Hinblick auf eine mögliche Korrelation zwischen Cäruloplasmin-Phänotypen und der Wilsonschen Krankheit untersucht. Als Kontrollen dienten 727 gesunde Personen. Die quantitative Cäruloplasmin-Bestimmung bestätigte die aus der Literatur bekannte Überlappung der sog. Heterozygoten und Kontrollpersonen. Bezüglich der Cäruloplasmin-Phänotypen wurde bei Patienten, ihren Verwandten und den Kontrollpersonen ausschließlich der häufigste Phänotype BB in der Stärkegelelektrophorese gefunden; Patienten mit Wilson-Krankheit besitzen also normale Cp-Phänotypen.

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Authors and Affiliations

  1. Institut für Humangenetik der Universität Hamburg, Germany

    H. W. Goedde, H. G. Benkmann, J. Lange & H. Harders

  2. Innere Abteilung des Krankenhauses Gummersbach und I. Medizinische Abteilung des Allgemeinen Krankenhauses Heidberg in Hamburg, Germany

    H. W. Goedde, H. G. Benkmann, J. Lange & H. Harders

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  1. H. W. Goedde
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  2. H. G. Benkmann
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  3. J. Lange
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  4. H. Harders
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Goedde, H.W., Benkmann, H.G., Lange, J. et al. Quantitative Bestimmung und Phänotypisierung des Cäruloplasmins bei Morbus Wilson. Klin Wochenschr 53, 731–734 (1975). https://doi.org/10.1007/BF01468706

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  • DOI: https://doi.org/10.1007/BF01468706

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