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Page 1
Management of phenylketonuria in Europe: survey results from 19 countries.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Pera MC, Coratti G, Pane M, Masson R, Sansone VA, D'Amico A, Catteruccia M, Agosto C, Varone A, Bruno C, Messina S, Ricci F, Bruno I, Procopio E, Pini A, Siliquini S, Zanin R, Albamonte E, Berardinelli A, Mastella C, Baranello G, Previtali SC, Trabacca A, Bravetti C, Gagliardi D, Filosto M, de Sanctis R, Finkel R, Mercuri E; Italian SMA type I Study Group. Pera MC, et al. Among authors: procopio e. EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39687428 Free PMC article.
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Barbato A, Gori G, Sacchini M, Pochiero F, Bargiacchi S, Traficante G, Palazzo V, Tiberi L, Bianchini C, Mei D, Parrini E, Pisano T, Procopio E, Guerrini R, Peron A, Stagi S. Barbato A, et al. Among authors: procopio e. Endocr Connect. 2024 Sep 28;13(10):e240221. doi: 10.1530/EC-24-0221. Print 2024 Oct 1. Endocr Connect. 2024. PMID: 39214134 Free PMC article.
MAIT cells monitor intestinal dysbiosis and contribute to host protection during colitis.
El Morr Y, Fürstenheim M, Mestdagh M, Franciszkiewicz K, Salou M, Morvan C, Dupré T, Vorobev A, Jneid B, Premel V, Darbois A, Perrin L, Mondot S, Colombeau L, Bugaut H, du Halgouet A, Richon S, Procopio E, Maurin M, Philippe C, Rodriguez R, Lantz O, Legoux F. El Morr Y, et al. Among authors: procopio e. Sci Immunol. 2024 Jun 21;9(96):eadi8954. doi: 10.1126/sciimmunol.adi8954. Epub 2024 Jun 21. Sci Immunol. 2024. PMID: 38905325 Free PMC article.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: procopio e. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
109 results