Matches in SemOpenAlex for { <https://semopenalex.org/work/W3006125013> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W3006125013 endingPage "182" @default.
- W3006125013 startingPage "181" @default.
- W3006125013 abstract "The study by Poon et al 1 outlines the issues associated with the use of current molecular diagnostic methodologies to rule in or rule out a diagnosis of Wilson’s disease (WD) or primary copper excess.1 WD is an autosomal recessive condition caused by pathogenic variants in the ATP7B gene, which encodes P-type ATPase protein/enzyme. Loss-of-function of the protein prevents incorporation of copper into caeruloplasmin, with reduced biliary copper excretion and concomitant copper deposition in hepatic parenchymal cells, the brain, kidneys and cornea.2 Individual approaches to WD diagnosis have poor diagnostic accuracy. Clinical symptoms ( e . g . , neurological decline) are ambiguous, clinical signs ( e . g . , Kayser-Fleischer rings) take time to manifest, appropriate laboratory tests ( i . e . , serum copper and caeruloplasmin, and urinary copper excretion) may be incomplete or inconclusive and genetic testing may miss rare variants. However, when these approaches are used synergistically for WD diagnosis, accuracy improves.In this study, clinical information was available for 27 of the 51 patients who had WD genetic testing. Eight of these 27 patients had a clinical diagnosis of WD based on clinical presentation, Kayser-Fleischer rings and/or laboratory testing. In the remaining cases genetic testing was performed to exclude the condition. Of the eight patients with WD, three had no genetic diagnosis. Interpretation of genetic variation in the ATP7B gene and the clinical significance of variants identified is fraught with difficulty. It is well established that genetic variation does not always impact protein functionality. Interpretation of genetic variants necessitates the consistent use of guidelines …" @default.
- W3006125013 created "2020-02-24" @default.
- W3006125013 creator A5008477546 @default.
- W3006125013 creator A5061145528 @default.
- W3006125013 creator A5069555061 @default.
- W3006125013 date "2020-02-14" @default.
- W3006125013 modified "2023-09-27" @default.
- W3006125013 title "Challenges in molecular diagnosis of Wilson disease" @default.
- W3006125013 cites W1942138142 @default.
- W3006125013 cites W1970999006 @default.
- W3006125013 cites W1985769027 @default.
- W3006125013 cites W1996610030 @default.
- W3006125013 cites W1998435529 @default.
- W3006125013 cites W2005582889 @default.
- W3006125013 cites W2022019800 @default.
- W3006125013 cites W2091363647 @default.
- W3006125013 cites W2137518691 @default.
- W3006125013 cites W2156506606 @default.
- W3006125013 cites W2783089924 @default.
- W3006125013 cites W2809357969 @default.
- W3006125013 cites W2897067527 @default.
- W3006125013 cites W2991664235 @default.
- W3006125013 cites W4211041131 @default.
- W3006125013 cites W4230652811 @default.
- W3006125013 cites W4253262523 @default.
- W3006125013 doi "https://doi.org/10.1136/jclinpath-2019-206215" @default.
- W3006125013 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32060076" @default.
- W3006125013 hasPublicationYear "2020" @default.
- W3006125013 type Work @default.
- W3006125013 sameAs 3006125013 @default.
- W3006125013 citedByCount "3" @default.
- W3006125013 countsByYear W30061250132021 @default.
- W3006125013 countsByYear W30061250132023 @default.
- W3006125013 crossrefType "journal-article" @default.
- W3006125013 hasAuthorship W3006125013A5008477546 @default.
- W3006125013 hasAuthorship W3006125013A5061145528 @default.
- W3006125013 hasAuthorship W3006125013A5069555061 @default.
- W3006125013 hasBestOaLocation W30061250131 @default.
- W3006125013 hasConcept C142724271 @default.
- W3006125013 hasConcept C2522767166 @default.
- W3006125013 hasConcept C2779134260 @default.
- W3006125013 hasConcept C41008148 @default.
- W3006125013 hasConcept C60644358 @default.
- W3006125013 hasConcept C70721500 @default.
- W3006125013 hasConcept C71924100 @default.
- W3006125013 hasConcept C86803240 @default.
- W3006125013 hasConceptScore W3006125013C142724271 @default.
- W3006125013 hasConceptScore W3006125013C2522767166 @default.
- W3006125013 hasConceptScore W3006125013C2779134260 @default.
- W3006125013 hasConceptScore W3006125013C41008148 @default.
- W3006125013 hasConceptScore W3006125013C60644358 @default.
- W3006125013 hasConceptScore W3006125013C70721500 @default.
- W3006125013 hasConceptScore W3006125013C71924100 @default.
- W3006125013 hasConceptScore W3006125013C86803240 @default.
- W3006125013 hasIssue "4" @default.
- W3006125013 hasLocation W30061250131 @default.
- W3006125013 hasLocation W30061250132 @default.
- W3006125013 hasOpenAccess W3006125013 @default.
- W3006125013 hasPrimaryLocation W30061250131 @default.
- W3006125013 hasRelatedWork W1986673875 @default.
- W3006125013 hasRelatedWork W1996408511 @default.
- W3006125013 hasRelatedWork W2082482010 @default.
- W3006125013 hasRelatedWork W2345065869 @default.
- W3006125013 hasRelatedWork W2553645446 @default.
- W3006125013 hasRelatedWork W2748952813 @default.
- W3006125013 hasRelatedWork W2765379856 @default.
- W3006125013 hasRelatedWork W2899084033 @default.
- W3006125013 hasRelatedWork W2969402716 @default.
- W3006125013 hasRelatedWork W4247880953 @default.
- W3006125013 hasVolume "73" @default.
- W3006125013 isParatext "false" @default.
- W3006125013 isRetracted "false" @default.
- W3006125013 magId "3006125013" @default.
- W3006125013 workType "article" @default.