An Update on Laboratory Diagnosis of Liver Inherited Diseases
Joint Authors
Elce, Ausilia
Giordano, Sonia
Amato, Felice
Scorza, Manuela
Castaldo, Giuseppe
Zarrilli, Federica
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-08
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement.
They include Wilson’s disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency.
In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases.
For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis.
This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis.
We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.
American Psychological Association (APA)
Zarrilli, Federica& Elce, Ausilia& Scorza, Manuela& Giordano, Sonia& Amato, Felice& Castaldo, Giuseppe. 2013. An Update on Laboratory Diagnosis of Liver Inherited Diseases. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030806
Modern Language Association (MLA)
Zarrilli, Federica…[et al.]. An Update on Laboratory Diagnosis of Liver Inherited Diseases. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1030806
American Medical Association (AMA)
Zarrilli, Federica& Elce, Ausilia& Scorza, Manuela& Giordano, Sonia& Amato, Felice& Castaldo, Giuseppe. An Update on Laboratory Diagnosis of Liver Inherited Diseases. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030806
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1030806