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The first European consensus on principles of management for achondroplasia.
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K. Cormier-Daire V, et al. Among authors: fredwall so. Orphanet J Rare Dis. 2021 Jul 31;16(1):333. doi: 10.1186/s13023-021-01971-6. Orphanet J Rare Dis. 2021. PMID: 34332609 Free PMC article.
Hearing loss in Norwegian adults with achondroplasia.
Fredwall SO, Åberg B, Berdal H, Savarirayan R, Solheim J. Fredwall SO, et al. Orphanet J Rare Dis. 2021 Nov 4;16(1):468. doi: 10.1186/s13023-021-02095-7. Orphanet J Rare Dis. 2021. PMID: 34736503 Free PMC article.
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Among authors: fredwall so. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.
Savarirayan R, Baratela W, Butt T, Cormier-Daire V, Irving M, Miller BS, Mohnike K, Ozono K, Rosenfeld R, Selicorni A, Thompson D, White KK, Wright M, Fredwall SO. Savarirayan R, et al. Among authors: fredwall so. Orphanet J Rare Dis. 2022 Jun 13;17(1):224. doi: 10.1186/s13023-022-02372-z. Orphanet J Rare Dis. 2022. PMID: 35698202 Free PMC article.
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Cormier-Daire V, AlSayed M, Alves I, Bengoa J, Ben-Omran T, Boero S, Fredwall S, Garel C, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K. Cormier-Daire V, et al. Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2. Orphanet J Rare Dis. 2022. PMID: 35897040 Free PMC article.
Optimising care and follow-up of adults with achondroplasia.
Fredwall S, Allum Y, AlSayed M, Alves I, Ben-Omran T, Boero S, Cormier-Daire V, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB, Wright M. Fredwall S, et al. Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3. Orphanet J Rare Dis. 2022. PMID: 35987833 Free PMC article.
21 results