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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. Joly P, et al. Among authors: ruiz m. PLoS One. 2017 Jun 15;12(6):e0179369. doi: 10.1371/journal.pone.0179369. eCollection 2017. PLoS One. 2017. PMID: 28617828 Free PMC article.
Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.
Ruiz M, Lacaille F, Berthiller J, Joly P, Dumortier J, Aumar M, Bridoux-Henno L, Jacquemin E, Lamireau T, Broué P, Rivet C, Belmalih A, Restier L, Chapuis-Cellier C, Bouchecareilh M, Lachaux A; Groupe Francophone d’Hépatologie Gastroentérologie et Nutrition Pédiatriques. Ruiz M, et al. Liver Int. 2019 Jun;39(6):1136-1146. doi: 10.1111/liv.14035. Epub 2019 Feb 1. Liver Int. 2019. PMID: 30589493
Long term results of liver transplantation for alpha-1 antitrypsin deficiency.
Guillaud O, Jacquemin E, Couchonnal E, Vanlemmens C, Francoz C, Chouik Y, Conti F, Duvoux C, Hilleret MN, Kamar N, Houssel-Debry P, Neau-Cransac M, Pageaux GP, Gonzales E, Ackermann O, Gugenheim J, Lachaux A, Ruiz M, Radenne S, Debray D, Lacaille F, McLin V, Duclos-Vallée JC, Samuel D, Coilly A, Dumortier J. Guillaud O, et al. Among authors: ruiz m. Dig Liver Dis. 2021 May;53(5):606-611. doi: 10.1016/j.dld.2020.10.016. Epub 2020 Nov 1. Dig Liver Dis. 2021. PMID: 33139195
Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency.
Ruiz M, Lacaille F, Schrader C, Pons M, Socha P, Krag A, Sturm E, Bouchecareilh M, Strnad P. Ruiz M, et al. Semin Liver Dis. 2023 Aug;43(3):258-266. doi: 10.1055/a-2122-7674. Epub 2023 Jul 4. Semin Liver Dis. 2023. PMID: 37402396 Review.
Alpha1-antitrypsin deficiency: An updated review.
Mornex JF, Traclet J, Guillaud O, Dechomet M, Lombard C, Ruiz M, Revel D, Reix P, Cottin V. Mornex JF, et al. Among authors: ruiz m. Presse Med. 2023 Sep;52(3):104170. doi: 10.1016/j.lpm.2023.104170. Epub 2023 Jul 29. Presse Med. 2023. PMID: 37517655 Review.
3,129 results