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Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review

Background: Wilson’s disease (WD) is an autosomal-recessive disorder of copper deposition caused by pathogenic variants in the copper-transporting ATP7B gene. There is not a clear correlation between genotype and phenotype in WD regarding symptom manifestations. This is supported by the presentation...

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Detalles Bibliográficos
Autores principales: Samadzadeh, Sara, Kruschel, Theodor, Novak, Max, Kallenbach, Michael, Hefter, Harald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318625/
https://www.ncbi.nlm.nih.gov/pubmed/35885998
http://dx.doi.org/10.3390/genes13071217