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Page 1
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. Among authors: hubert a. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome.
Aronson SJ, Veron P, Collaud F, Hubert A, Delahais V, Honnet G, de Knegt RJ, Junge N, Baumann U, Di Giorgio A, D'Antiga L, Ginocchio VM, Brunetti-Pierri N, Labrune P, Beuers U, Bosma PJ, Mingozzi F. Aronson SJ, et al. Among authors: hubert a. Hum Gene Ther. 2019 Oct;30(10):1297-1305. doi: 10.1089/hum.2019.143. Hum Gene Ther. 2019. PMID: 31502485 Free PMC article.
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Aronson SJ, Junge N, Trabelsi M, Kelmemi W, Hubert A, Brigatti KW, Fox MD, de Knegt RJ, Escher JC, Ginocchio VM, Iorio R, Zhu Y, Özçay F, Rahim F, El-Shabrawi MHF, Shteyer E, Di Giorgio A, D'Antiga L, Mingozzi F, Brunetti-Pierri N, Strauss KA, Labrune P, Mrad R, Baumann U, Beuers U, Bosma PJ; CureCN Consortium. Aronson SJ, et al. Among authors: hubert a. Liver Int. 2022 Jul;42(7):1593-1604. doi: 10.1111/liv.15239. Epub 2022 Mar 29. Liver Int. 2022. PMID: 35274801 No abstract available.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. Among authors: hubert a. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM. Ben Yaou R, et al. Among authors: hubert a. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. Rubio-Gozalbo ME, et al. Among authors: hubert a. Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z. Orphanet J Rare Dis. 2019. PMID: 31029175 Free PMC article.
Protein biomarkers and alternatively methylated cell-free DNA detect early stage pancreatic cancer.
Ben-Ami R, Wang QL, Zhang J, Supplee JG, Fahrmann JF, Lehmann-Werman R, Brais LK, Nowak J, Yuan C, Loftus M, Babic A, Irajizad E, Davidi T, Zick A, Hubert A, Neiman D, Piyanzin S, Gal-Rosenberg O, Horn A, Shemer R, Glaser B, Boos N, Jajoo K, Lee L, Clancy TE, Rubinson DA, Ng K, Chabot JA, Kastrinos F, Kluger M, Aguirre AJ, Jänne PA, Bardeesy N, Stanger B, O'Hara MH, Till J, Maitra A, Carpenter EL, Bullock AJ, Genkinger J, Hanash SM, Paweletz CP, Dor Y, Wolpin BM. Ben-Ami R, et al. Among authors: hubert a. Gut. 2024 Mar 7;73(4):639-648. doi: 10.1136/gutjnl-2023-331074. Gut. 2024. PMID: 38123998 Free PMC article.
310 results