Literature DB >> 16695860

DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE.

I Sternlier1, A G Morell, C D Bauer, B Combes, S De Bobes-Sternberg, I H Schein-Berg.   

Abstract

Year:  1961        PMID: 16695860      PMCID: PMC290777          DOI: 10.1172/JCI104304

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


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  26 in total

1.  Studies on copper metabolism. XIV. Radioactive copper studies in normal subjects and in patients with hepatolenticular degeneration.

Authors:  J A BUSH; J P MAHONEY; H MARKOWITZ; C J GUBLER; G E CARTWRIGHT; M M WINTROBE
Journal:  J Clin Invest       Date:  1955-12       Impact factor: 14.808

2.  Exchange of ceruloplasmin copper with ionic Cu64 with reference to Wilson's disease.

Authors:  I H SCHEINBERG; A G MORELL
Journal:  J Clin Invest       Date:  1957-08       Impact factor: 14.808

3.  Rapid test for hepatolenticular degeneration.

Authors:  H A RAVIN
Journal:  Lancet       Date:  1956-05-19       Impact factor: 79.321

4.  Copper transport and excretion in normal subjects and in patients with Laennec's cirrhosis and Wilson's disease: a study with CU64.

Authors:  W N JENSEN; H KAMIN
Journal:  J Lab Clin Med       Date:  1957-02

5.  Studies on copper metabolism. XIII. Hepatolenticular degeneration.

Authors:  G E CARTWRIGHT; R E HODGES; C J GUBLER; J P MAHONEY; K DAUM; M M WINTROBE; W B BEAN
Journal:  J Clin Invest       Date:  1954-11       Impact factor: 14.808

6.  [Considerations on Wilson's disease; genealogic, clinical, and metabolic investigations on 60 members of one family].

Authors:  G HEUYER; A BAUDOIN; H AZIMA; H FAURE; H JEROME; H SCHMITT
Journal:  Rev Neurol (Paris)       Date:  1953       Impact factor: 2.607

7.  Genetic and biochemical aspects of Wilson's disease.

Authors:  A G BEARN
Journal:  Am J Med       Date:  1953-10       Impact factor: 4.965

8.  Metabolism of copper in Wilson's disease and in normal subjects; studies with Cu-64.

Authors:  C J EARL; M J MOULTON; B SELVERSTONE
Journal:  Am J Med       Date:  1954-08       Impact factor: 4.965

9.  A clinical and biochemical study of hepatolenticular degeneration (Wilson's disease).

Authors:  H BICKEL; F C NEALE; G HALL
Journal:  Q J Med       Date:  1957-10

10.  Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).

Authors:  I H SCHEINBERG; D GITLIN
Journal:  Science       Date:  1952-10-31       Impact factor: 47.728

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  14 in total

1.  ABSORPTION OF COPPER IN MALABSORPTION SYNDROMES.

Authors:  I STERNLIEB; H D JANOWITZ
Journal:  J Clin Invest       Date:  1964-06       Impact factor: 14.808

2.  Studies on the oxidase properties of ceruloplasmin: factors in normal and Wilson's-disease serum affecting oxidase activity.

Authors:  J M WALSHE
Journal:  J Clin Invest       Date:  1963-07       Impact factor: 14.808

3.  THE INCORPORATION OF COPPER INTO CERULOPLASMIN IN VIVO: STUDIES WITH COPPER AND COPPER.

Authors:  I Sternlieb; A G Morell; W D Tucker; M W Greene; I H Scheinberg
Journal:  J Clin Invest       Date:  1961-10       Impact factor: 14.808

4.  [Advances in the recognition of heterozygous characteristics in hereditary enzymopathies].

Authors:  F LINNEWEH
Journal:  Klin Wochenschr       Date:  1962-06-01

5.  Copper deficiency related myelopathy 40 years following a jejunoileal bypass.

Authors:  Shawn Joshi; Mitra McLarney; Benjamin Abramoff
Journal:  Spinal Cord Ser Cases       Date:  2019-12-16

6.  Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.

Authors:  G Gromadzka; G Chabik; T Mendel; A Wierzchowska; M Rudnicka; A Czlonkowska
Journal:  J Genet       Date:  2010-12       Impact factor: 1.166

7.  Orthotopic liver transplantation for Wilson's disease.

Authors:  R S DuBois; D O Rodgerson; G Martineau; G Shroter; G Giles; J Lilly; C G Halgrimson; T E Starzl; I Sternlieb; I H Scheinberg
Journal:  Lancet       Date:  1971-03-13       Impact factor: 79.321

8.  A genetic study of Wilson's disease: evidence for heterogeneity.

Authors:  D W Cox; F C Fraser; A Sass-Kortsak
Journal:  Am J Hum Genet       Date:  1972-11       Impact factor: 11.025

9.  Biochemical and clinical changes in Wilson's disease heterozygotes.

Authors:  Z Marecek; S Nevsímalová
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Ceruloplasmin in Wilson's disease.

Authors:  N A Holtzman; M A Naughton; F L Iber; B M Gaumnitz
Journal:  J Clin Invest       Date:  1967-06       Impact factor: 14.808

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