A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment

Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neur...

Descripción completa

Detalles Bibliográficos
Autores principales: Penning, Louis C., Berenguer, Marina, Czlonkowska, Anna, Double, Kay L., Dusek, Petr, Espinós, Carmen, Lutsenko, Svetlana, Medici, Valentina, Papenthin, Wiebke, Stremmel, Wolfgang, Willemse, Jose, Weiskirchen, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Concept Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953205/
https://www.ncbi.nlm.nih.gov/pubmed/36830958
http://dx.doi.org/10.3390/biomedicines11020420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953205/
https://www.ncbi.nlm.nih.gov/pubmed/36830958
http://dx.doi.org/10.3390/biomedicines11020420

Ejemplares similares