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Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient
Wilson’s disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson’s disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenoty...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SMC Media Srl
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8833306/ https://www.ncbi.nlm.nih.gov/pubmed/35169583 http://dx.doi.org/10.12890/2022_003141 |