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1Klinik für Endokrinologie, Stoffwechsel- und Ernährungsmedizin, Campus Charité Mitte, Charité - Universitätsmedizin Berlin, Charitéplatz 1, Berlin, Deutschland. laura.schmidt-pennington@charite.de.
Delayed diagnosis for rare diseases (RD) impacts prognosis and quality of life. A structured pathway can empower primary caretakers, shorten diagnosis times, and improve care coordination for rare disease patients.
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