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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...
Autores principales: | Samadzadeh, Sara, Kruschel, Theodor, Novak, Max, Kallenbach, Michael, Hefter, Harald |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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