Literature DB >> 549306

[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].

H Bachmann, J Lössner, D Biesold.   

Abstract

The experiences of the central institution for Wilson's disease are reported. On the basis of 126 patients who come from 90 clans with 92 families the authors adopt a definite attitude to the problem of genetics, epidemiology and genetic family consultation. The unexceptional validity of the autosomal-recessive hereditary transmission may be confirmed. An incidence of 2.9/100,000 is assumed, from which a gene frequency of 0.53% and a frequency of heterozygotes of 1.05% can be estimated. The questions of the genetic background of polyphenia are discussed.

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Year:  1979        PMID: 549306

Source DB:  PubMed          Journal:  Z Gesamte Inn Med        ISSN: 0044-2542


  8 in total

1.  [Wilson's disease and Westphal-Strümpell pseudosclerosis: conceptual history in German-speaking countries].

Authors:  P Boide; A Wagner; H Steinberg
Journal:  Nervenarzt       Date:  2011-10       Impact factor: 1.214

Review 2.  Wilson disease.

Authors:  Anna Członkowska; Tomasz Litwin; Petr Dusek; Peter Ferenci; Svetlana Lutsenko; Valentina Medici; Janusz K Rybakowski; Karl Heinz Weiss; Michael L Schilsky
Journal:  Nat Rev Dis Primers       Date:  2018-09-06       Impact factor: 52.329

3.  The Kayser-Fleischer ring during long-term treatment in Wilson's disease (hepatolenticular degeneration). A follow-up study.

Authors:  A Lössner; J Lössner; H Bachmann; J Zotter
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

4.  Presenting symptoms and natural history of Wilson disease.

Authors:  T Saito
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

5.  Epidemiology and natural history of Wilson's disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016.

Authors:  Ka-Shing Cheung; Wai-Kay Seto; James Fung; Lung-Yi Mak; Ching-Lung Lai; Man-Fung Yuen
Journal:  World J Gastroenterol       Date:  2017-11-21       Impact factor: 5.742

6.  The dilemma to diagnose Wilson disease by genetic testing alone.

Authors:  Albert Friedrich Stättermayer; Andreas Entenmann; Michael Gschwantler; Heinz Zoller; Harald Hofer; Peter Ferenci
Journal:  Eur J Clin Invest       Date:  2019-06-20       Impact factor: 4.686

7.  A population-based epidemiology of Wilson's disease in South Korea between 2010 and 2016.

Authors:  Eun Ju Choe; Jong Won Choi; Minjin Kang; Yong Kang Lee; Han Ho Jeon; Byung Kyu Park; Sun Young Won; Yong Suk Cho; Jeong Hun Seo; Chun Kyon Lee; Jae Bock Chung
Journal:  Sci Rep       Date:  2020-08-20       Impact factor: 4.379

8.  Use of the bibliometric in rare diseases: taking Wilson disease personally.

Authors:  Lin Chen; Zhuoqi Lou; Yangxin Fang; Liya Pan; Jianhua Zhao; Yifan Zeng; Ying Wang; Nan Wang; Bing Ruan
Journal:  Orphanet J Rare Dis       Date:  2022-07-29       Impact factor: 4.303

  8 in total

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