Article
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Journal of pediatric gastroenterology and nutrition - 1 Feb 2022
Lorente-Arencibia Pascual, García-Villarreal Luis, González-Montelongo Rafaela, Rubio-Rodríguez Luis A, Flores Carlos, Garay-Sánchez Paloma, delaCruz Tanausú, Santana-Verano Milagros, Rodríguez-Esparragón Francisco, Benitez-Reyes Juana N, Fernández-Fuertes Fernando, Tugores Antonio
Abstract excerpt
OBJECTIVES: Diagnosis of Wilson disease (WD) is difficult and, as early detection may prevent all symptoms, it is essential to know the exact prevalence to evaluate the cost-efficacy of a screening program. As the number of WD patients was high in our population, we wished to estimate prevalence by determining the carrier frequency for clinically relevant ATP7B mutations. METHODS: To estimate prevalence,...
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