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Page 1
∆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.
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.
Increased incidence of seronegative autoimmune hepatitis in children during SARS-CoV-2 pandemia period.
Schmutz M, Chartier S, Leblanc T, Mussini C, Gardin A, Gonzales E, Roque-Afonso AM, Le Cam S, Hery G, Neven B, Charbel R, Vartanian JP, Jacquemin E, Morelle G, Almes M. Schmutz M, et al. Among authors: gardin a. Front Immunol. 2024 Sep 11;15:1445610. doi: 10.3389/fimmu.2024.1445610. eCollection 2024. Front Immunol. 2024. PMID: 39328418 Free PMC article.
Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
Guida L, Gardin A, James S, Arnaud E, Toujouse C, Roux J, Barreau E, Benali Abdallah M, Almes M, Sartori L, Kavoura K, Ackermann O, Gonzales E, Jacquemin E, Khonsari RH, Paternoster G. Guida L, et al. Among authors: gardin a. Neurosurg Focus. 2025 Jan 1;58(1):E6. doi: 10.3171/2024.10.FOCUS24588. Neurosurg Focus. 2025. PMID: 39742518
61 results