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“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

BACKGROUND: Wilson disease (WD) is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain, resulting in heterogenous hepatic, neurologic, and psychiatric symptoms. Diagnosis can occur at any age, requiring lifelong treatment, which...

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Detalles Bibliográficos
Autores principales: Bailey, Karen M, Sahota, Navdeep, To, Uyen, Hedera, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288732/
https://www.ncbi.nlm.nih.gov/pubmed/37349760
http://dx.doi.org/10.1186/s13023-023-02778-3