Rare Diseases at The Emergency Department: Time for Action
Keywords:
Rare Diseases, Chromosomal, Abnormalities, HealthcareAbstract
In Europe rare diseases (RD) are defined as those that affect one in two thousand individuals or fewer. Globally, they affect around 6% of the population, and this means that, collectively, healthcare providers deal with a considerable number of patients with a rare disease, of which over 70% are genetically determined. Aim of this paper is to develop a proposal for a national flowchart applicable to patients with known or unknown rare disorders at the ED.
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