๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis

โœ Scribed by Michael L. Schilsky


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
665 KB
Volume
20
Category
Article
ISSN
0270-9139

No coin nor oath required. For personal study only.

โœฆ Synopsis


In the past, this section reviewed a potpourri of articles in each issue. We introduce in this issue a new feature of Hepatology Elsewhere. Whenever it is appropriate, we will showcase articles with a common theme. Given the explosion of new medical information pertaining to hepatobiliary physiology and pathology, we believe that by encompassing a common theme and providing reviews on relevant articles in one issue, you will reap the most benefit from this section. The feature articles and their reviews in this issue provide a comprehensive discussion of a major medical breakthrough in the field of inherited metabolic liver diseases (i.e., the identification and characterization of the Wilson's disease gene). We hope you will find this special feature enjoyable.


๐Ÿ“œ SIMILAR VOLUMES


Identification of crossovers in Wilson d
โœ H. Scheffer; R. H. J. Houwen; G. J. TeMeerman; J. Loessner; B. Bachmann; E. Kune ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 430 KB

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. A minimum recombinant analysis using D13S22, ESD, RB1, D13S31, D13S55, D13S26, D13S39, and D13S12, all localized at 13q14-q22, has been carried out in 20 WD families of Northwest-European origin. No inconsistencies have bee

Molecular diagnosis of McArdle disease:
โœ Christian Kubisch; Eva M. Wicklein; Thomas J. Jentsch ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 213 KB ๐Ÿ‘ 2 views

McArdle disease is a rare autosomal recessive disorder of the muscle glycogen metabolism caused by mutations in the muscle glycogen phosphorylase gene. Until now, a total number of 11 different mutations in the coding region or splice sites of the myophosphorylase gene have been identified. In contr

Liver transplantation for Wilson's disea
โœ Valentina Medici; Vincenzo G. Mirante; Luigi R. Fassati; Maurizio Pompili; Domen ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 148 KB

A retrospective data analysis on liver transplantation for Wilson's disease (WD) was performed among Italian Liver Transplant Centers. Thirty-seven cases were identified. The main indication for liver transplantation was chronic advanced liver disease in 78% of patients. Mixed hepatic and neuropsych