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BACKGROUND Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases. METHODS Data from the rare diseases registry established in the Veneto Region of(More)
Inherited metabolic diseases are rare but may cause severe damages if not cared for in time. A neonatal screening program, including a first quick test to all newborns and a second accurate test for patients with positive results, is being planned in Veneto region, northeast Italy. A simulation model describing all operations has been built and implemented(More)
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