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[Monogenic obesity: pathophysiology, diagnosis and treatment].
Andrés ME, Armeno M, Alonso E, Braslavsky D, Garrido V, González X, Grimberg N, Hernández J, Miari F, Mouge C, Ortiz E, Patrono A, Poli P, Politei J, Roussos A, Tonietti M, Vago L, Kovalskys I. Andrés ME, et al. Among authors: politei j. Medicina (B Aires). 2024;84(6):1191-1205. Medicina (B Aires). 2024. PMID: 39666413 Free article. Review. Spanish.
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.
Jaurretche S, Alonso S, Calvo M, Fernandez S, Figueredo H, Galli B, Marin I, Martinez A, Mattausch S, Perretta F, Politei J, Rolon JI, Calabrese E. Jaurretche S, et al. Among authors: politei j. Glob Health Epidemiol Genom. 2024 Feb 19;2024:9293896. doi: 10.1155/2024/9293896. eCollection 2024. Glob Health Epidemiol Genom. 2024. PMID: 38410281 Free PMC article.
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Bichet DG, et al. Among authors: politei j. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37727761 Free PMC article.
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Wanner C, Ortiz A, Wilcox WR, Hopkin RJ, Johnson J, Ponce E, Ebels JT, Batista JL, Maski M, Politei JM, Martins AM, Banikazemi M, Linhart A, Mauer M, Oliveira JP, Weidemann F, Germain DP. Wanner C, et al. Among authors: politei jm. Mol Genet Metab. 2023 Jul;139(3):107603. doi: 10.1016/j.ymgme.2023.107603. Epub 2023 Apr 29. Mol Genet Metab. 2023. PMID: 37236007 Free article. Review.
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Among authors: politei j. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
77 results