The Italian National Centre for Rare Diseases: where research and public health translate into action.

Autor: Taruscio D; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Agresta L; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Amato A; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Bernardo G; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Bernardo L; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Braguti F; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Carbone P; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Carta C; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Ceccarini M; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Censi F; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Coppola S; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Crialese P; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., De Santis M; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Diemoz S; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Donati C; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Gainotti S; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Ferrari G; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Floridia G; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Frank C; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Frazzica RG; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Gentile AE; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Granata O; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Kodra Y; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Latrofa M; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Laricchiuta P; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Magrelli A; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Morciano C; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Polizzi A; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Razeto S; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Salvatore M; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Sanseverino A; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Savini D; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Torreri P; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Tosto F; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Villani F; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Vincenti G; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy., Vittozzi L; Italian National Centre for Rare Diseases, National Institute of Health, Rome, Italy.

Publikováno v: Blood transfusion = Trasfusione del sangue [Blood Transfus] 2014 Apr; Vol. 12 Suppl 3, pp. s591-605.

EUROPLAN: a project to support the development of national plans on rare diseases in Europe.

Autor: Taruscio D; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E

Publikováno v: Public health genomics [Public Health Genomics] 2013; Vol. 16 (6), pp. 278-87. Date of Electronic Publication: 2014 Feb 03.

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).

Autor: Paglialonga, Alessia¹ (AUTHOR), Gaetano, Raffaella² (AUTHOR), Robert, Leema³ (AUTHOR), Hurard, Marine⁴ (AUTHOR), Botella, Luisa Maria^5,6 (AUTHOR), Barr, Natasha⁴ (AUTHOR), Jondeau, Guillaume⁷ (AUTHOR), Pini, Alessandro^8,9 (AUTHOR) alessandro.pini@grupposandonato.it

Publikováno v: Orphanet Journal of Rare Diseases. 4/8/2021, Vol. 16 Issue 1, p1-12. 12p.

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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management.

Autor: Grinten, Hedi L Claahsen - van der, Speiser, Phyllis W, Ahmed, S Faisal, Arlt, Wiebke, Auchus, Richard J, Falhammar, Henrik, Flück, Christa E, Guasti, Leonardo, Huebner, Angela, Kortmann, Barbara B M, Krone, Nils, Merke, Deborah P, Miller, Walter L, Nordenström, Anna, Reisch, Nicole, Sandberg, David E, Stikkelbroeck, Nike M M L, Touraine, Philippe, Utari, Agustini, Wudy, Stefan A

Publikováno v: Endocrine Reviews; Feb2022, Vol. 43 Issue 1, p91-159, 69p