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Wilson disease

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Wilson disease" returned 14 free, full-text review articles. First few results:
Autophagy delays progression of the two most frequent human monogenetic lethal diseases: cystic fibrosis and Wilson disease.
Last Updated: Dec 10, 2019

Cystic fibrosis (CF) and Wilson disease (WD) are two monogenetic, recessively inherited lethal pathologies that are caused by ionic disequilibria. CF results from loss-of-function mutations in CF transmembrane conductance regulator (CFTR), a channel that conducts chloride across epithelial ...

Update on the Diagnosis and Management of Wilson Disease.
Last Updated: Mar 20, 2019

Exciting developments relating to Wilson disease (WD) have taken place with respect to both basic biological and clinical research. This review critically examines some of these findings and considers their implications for current thinking about WD. It is not a comprehensive review ...

Wilson disease.
Last Updated: Sep 03, 2019

Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis ...

Full PubMed Review articles matches at NCBI:
14 Free Review Articles 89 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Wilson disease" returned 5 free, full-text editorial articles. First few results:
Pregnancy in Wilson disease.
Last Updated: Oct 01, 2018

Full PubMed Editorials matches at NCBI:
5 Free Editorials 18 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Wilson disease" returned 198 free, full-text research articles. First few results:
Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease.
Last Updated: Jan 24, 2020

To study the relationship between genotype and clinical phenotype of major gene mutation sites in patients with Wilson disease (WD).Clinical and laboratory data were collected from 40 children with WD admitted to the hospital by high-pass sequencing. The basic clinical data of patients ...

Oxidative hemolysis due to Wilson disease.
Last Updated: Jan 23, 2020

Scheimpflug Imaging of the Danish Cohort of Patients With Wilson Disease.
Last Updated: Aug 23, 2019

The purpose of this study was to investigate the use of anterior segment imaging in diagnosing Kayser-Fleischer rings in patients with Wilson disease.

Full PubMed Research articles matches at NCBI:
198 Free Research Articles 658 Research Articles