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GENETICAL STUDIES ON WILSON'S DISEASE:I. CLINICAL AND BIOCHEMICAL STUDIES Masataka Arima 1 , Takao Kurumada 1 , Shigehiko Kamoshita 1 1Department of Pediatrics, University of Tokyo pp.21-28
Published Date 1963/1/1
DOI https://doi.org/10.11477/mf.1406201395
  • Abstract
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A genetical and biochemical analysis per-formed for sixteen families with Wilson's dis-ease of childhood indicated that the mode of inheritance in Wilson's disease is very pro-bably autosomal recessive. Hepatic symptoms were predominant in the patients who develo-ped the disease under nine years of age.

By a successive determination over a peri-od of three or more months, a decreased con-centration of ceruloplasmin had been obtained at least once in fourteen of thirty parents and thirteen of thirty-two healthy siblings. In the patients whose ceruloplasmin levels had been extremely low only minimum fluc-tuations of the leveles were observed, while a marked increase or decrease in the levels occured in the patients with a slightly low ceruloplasminl evels and in the heterozygotes. In almos tall heterozygotes, Kayser-Fleischer rings, abnormal hepatic function, and an inc-reased urinary copper and aminoacid were not found.


Copyright © 1963, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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