Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Autor: Wang, Chiuhui Mary¹ (AUTHOR) mary.wang@rarediseasesint.org, Whiting, Amy Heagle¹ (AUTHOR), Rath, Ana² (AUTHOR), Anido, Roberta³ (AUTHOR), Ardigò, Diego⁴ (AUTHOR), Baynam, Gareth⁵ (AUTHOR), Dawkins, Hugh⁶ (AUTHOR), Hamosh, Ada⁷ (AUTHOR), Le Cam, Yann⁸ (AUTHOR), Malherbe, Helen^9,10 (AUTHOR), Molster, Caron M.¹¹ (AUTHOR), Monaco, Lucia¹² (AUTHOR), Padilla, Carmencita D.¹³ (AUTHOR), Pariser, Anne R.¹² (AUTHOR), Robinson, Peter N.¹⁴ (AUTHOR), Rodwell, Charlotte² (AUTHOR), Schaefer, Franz¹⁵ (AUTHOR), Weber, Stefanie¹⁶ (AUTHOR), Macchia, Flaminia¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/11/2024, Vol. 19 Issue 1, p1-6. 6p.