NettetThis is the protocol for a review and there is no abstract. The objectives are as follows: The objective of this review is to determine the diagnostic accuracy of the index tests for WD. The index ... Nettet1. mai 2024 · The growing new knowledge about Wilson’s disease (WD) has ramifications for understanding the pathophysiology and optimal clinical management of this rare condition. The aim of this review is to recapitulate the current understanding of the genetics of WD, explain the challenges in diagnosis and management, and appraise the pipeline …

The Diagnostic Approach to Wilson Disease - ScienceDirect

NettetBACKGROUND Wilson's disease is a rare but treatable condition that often presents diagnostic dilemmas. These dilemmas have for the most part not been resolved by the … NettetDiagnostic criteria for WD are variable, with the AASLD proposing a clinical/biochemical algorithmic approach, while EASL and ESPGHAN favor use of the Leipzig score. … spleen mesothelial cyst

JCM Free Full-Text Wilson’s Disease: An Update on the ... - MDPI

Nettet4. okt. 2024 · Wilson's disease is an autosomal-recessive disease of copper accumulation and toxicity caused by a defect in an enzyme involved in the excretion of … Nettet7. nov. 2024 · Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, encoding for a key regulator of copper homeostasis [].Toxic accumulation of free metal, initially in the liver followed by other organs, such as the brain, the kidney and the cornea, leads to liver disease, … Nettet31. aug. 2024 · Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. It is found worldwide, with a prevalence of … spleen nyt crossword clue