Literature DB >> 7483606

Inherited liver diseases in adults.

A Kumar1, C A Riely.   

Abstract

Important inherited disorders causing acute and chronic liver disease include hemochromatosis, Wilson's disease, alpha 1-antiprotease (antitrypsin) deficiency, and cystic fibrosis. The detection of an index case has implications for screening family members. A normal life span can be expected with treatment in asymptomatic patients with Wilson's disease and hemochromatosis. We present a clinical approach to disease recognition, investigation, and screening.

Entities:  

Mesh：

Year:  1995        PMID： 7483606      PMCID： PMC1303145     

Source DB:  PubMed          Journal:  West J Med        ISSN： 0093-0415


  15 in total

1.  Liver dysfunction in cystic fibrosis--beneficial effect of bile acid treatment.

Authors:  C A Riely
Journal:  Gastroenterology       Date:  1991-05       Impact factor: 22.682

2.  Gene therapy of cystic fibrosis lung disease using E1 deleted adenoviruses: a phase I trial.

Authors:  J M Wilson; J F Engelhardt; M Grossman; R H Simon; Y Yang
Journal:  Hum Gene Ther       Date:  1994-04       Impact factor: 5.695

3.  Cloning the Wilson disease gene.

Authors:  J Chelly; A P Monaco
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

4.  Hereditary hemochromatosis.

Authors:  T A Rouault
Journal:  JAMA       Date:  1993 Jun 23-30       Impact factor: 56.272

5.  The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Authors:  P C Bull; G R Thomas; J M Rommens; J R Forbes; D W Cox
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

6.  Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients.

Authors:  V Balan; W Baldus; V Fairbanks; V Michels; M Burritt; G Klee
Journal:  Gastroenterology       Date:  1994-08       Impact factor: 22.682

7.  Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society.

Authors:  E A Wulfsberg; D E Hoffmann; M M Cohen
Journal:  JAMA       Date:  1994-01-19       Impact factor: 56.272

8.  A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.

Authors:  Y Wu; I Whitman; E Molmenti; K Moore; P Hippenmeyer; D H Perlmutter
Journal:  Proc Natl Acad Sci U S A       Date:  1994-09-13       Impact factor: 11.205

9.  Liver transplantation for Wilson's disease: indications and outcome.

Authors:  M L Schilsky; I H Scheinberg; I Sternlieb
Journal:  Hepatology       Date:  1994-03       Impact factor: 17.425

10.  Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F.

Authors:  P Gasparini; L Borgato; A Piperno; D Girelli; O Olivieri; E Gottardi; A Roetto; I Dianzani; S Fargion; G Schinaia
Journal:  Hum Mol Genet       Date:  1993-05       Impact factor: 6.150
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