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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E, Gardin A, Almes M, Darmellah-Remil A, Seguin H, Mussini C, Franchi-Abella S, Duché M, Ackermann O, Thébaut A, Habes D, Hermeziu B, Lapalus M, Falguières T, Combal JP, Benichou B, Valero S, Davit-Spraul A, Jacquemin E. Gonzales E, et al. Among authors: gardin a. JHEP Rep. 2023 Jul 13;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. eCollection 2023 Oct. JHEP Rep. 2023. PMID: 37701337 Free PMC article.
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A, Ruiz M, Beime J, Cananzi M, Rathert M, Rohmer B, Grabhorn E, Almes M, Logarajah V, Peña-Quintana L, Casswall T, Darmellah-Remil A, Reyes-Domínguez A, Barkaoui E, Hierro L, Baquero-Montoya C, Baumann U, Fischler B, Gonzales E, Davit-Spraul A, Laplanche S, Jacquemin E. Gardin A, et al. Orphanet J Rare Dis. 2023 Dec 7;18(1):383. doi: 10.1186/s13023-023-02984-z. Orphanet J Rare Dis. 2023. PMID: 38062451 Free PMC article.
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G. Gardin A, et al. J Clin Invest. 2024 Jan 16;134(2):e172018. doi: 10.1172/JCI172018. J Clin Invest. 2024. PMID: 38015640 Free PMC article.
55 results