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The impact of family screening in patients with Wilson’s disease from the Republic of Moldova
Veronica Cumpata1,2*, Adela Turcanu1,2, Victoria Sacara3
https://doi.org/10.52645/MJHS.2024.1.03
This study investigates Wilson’s disease (WD), a rare genetic disorder, highlighting the importance of family screening for early detection and treatment. Evaluating 12 Moldovan families from 2008 to 2023, the research used genetic testing to identify both symptomatic and asymptomatic cases. The findings emphasize the necessity of genetic counseling and comprehensive family screening to identify healthy carriers and asymptomatic individuals, improving diagnosis and treatment strategies for WD.