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Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey.
Faye F, Crocione C, Anido de Peña R, Bellagambi S, Escati Peñaloza L, Hunter A, Jensen L, Oosterwijk C, Schoeters E, de Vicente D, Faivre L, Wilbur M, Le Cam Y, Dubief J. Faye F, et al. Among authors: le cam y. Eur J Hum Genet. 2024 May 16. doi: 10.1038/s41431-024-01604-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38755315
Strengthening health systems for access to gene therapy in rare genetic disorders.
Bhatia S, Le Cam Y, Carrion J, Diamond L, Fennessy P, Gassman S, Gutzwiller F, Kagan S, Pankevich D, Young Maloney J, Mahadev N, Schulz M, Wong-Rieger D, Morgese P. Bhatia S, et al. Among authors: le cam y. Mol Ther Methods Clin Dev. 2024 Mar 13;32(2):101220. doi: 10.1016/j.omtm.2024.101220. eCollection 2024 Jun 13. Mol Ther Methods Clin Dev. 2024. PMID: 38516694 Free PMC article. No abstract available.
Patients, payers and developers of Orphan Medicinal Products: lessons learned from 10 years' multi-stakeholder dialogue on improving access in Europe via MoCA.
Cavaller-Bellaubi M, Hughes-Wilson W, Kubinová Š, Van de Casteele M, Van Lente EJ, Degortes E, Pontén J, Eichler HG, Le Cam Y, Boselli S, Bucsics A. Cavaller-Bellaubi M, et al. Among authors: le cam y. Orphanet J Rare Dis. 2023 Jun 12;18(1):144. doi: 10.1186/s13023-023-02774-7. Orphanet J Rare Dis. 2023. PMID: 37308991 Free PMC article.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Among authors: le cam y. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expert Group).
Aartsma-Rus A, Dooms M, Le Cam Y. Aartsma-Rus A, et al. Among authors: le cam y. Front Pharmacol. 2021 Dec 16;12:744532. doi: 10.3389/fphar.2021.744532. eCollection 2021. Front Pharmacol. 2021. PMID: 34975469 Free PMC article.
74 results