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Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Among authors: rab m. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Huisjes R, Makhro A, Llaudet-Planas E, Hertz L, Petkova-Kirova P, Verhagen LP, Pignatelli S, Rab MAE, Schiffelers RM, Seiler E, van Solinge WW, Corrons JV, Kaestner L, Mañú-Pereira M, Bogdanova A, van Wijk R. Huisjes R, et al. Among authors: rab mae. Haematologica. 2020 Jan 31;105(2):338-347. doi: 10.3324/haematol.2018.188151. Print 2020. Haematologica. 2020. PMID: 31147440 Free PMC article.
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Rab MAE, Van Oirschot BA, Kosinski PA, Hixon J, Johnson K, Chubukov V, Dang L, Pasterkamp G, Van Straaten S, Van Solinge WW, Van Beers EJ, Kung C, Van Wijk R. Rab MAE, et al. Haematologica. 2021 Jan 1;106(1):238-249. doi: 10.3324/haematol.2019.238865. Haematologica. 2021. PMID: 31974203 Free PMC article.
Effects of Genotypes and Treatment on Oxygenscan Parameters in Sickle Cell Disease.
Boisson C, Rab MAE, Nader E, Renoux C, Kanne C, Bos J, van Oirschot BA, Joly P, Fort R, Gauthier A, Stauffer E, Poutrel S, Kebaili K, Cannas G, Garnier N, Renard C, Hequet O, Hot A, Bertrand Y, van Wijk R, Sheehan VA, van Beers EJ, Connes P. Boisson C, et al. Cells. 2021 Apr 5;10(4):811. doi: 10.3390/cells10040811. Cells. 2021. PMID: 33916502 Free PMC article.
Comparisons of oxygen gradient ektacytometry parameters between sickle cell patients with or without α-thalassaemia.
Boisson C, Renoux C, Nader E, Gauthier A, Poutrel S, Rab M, Fort R, Bertrand Y, Stauffer E, Cannas G, Kebaili K, Virot E, Hot A, Sheehan V, van Beers E, van Wijk R, Joly P, Connes P. Boisson C, et al. Among authors: rab m. Br J Haematol. 2021 Nov;195(4):629-633. doi: 10.1111/bjh.17777. Epub 2021 Aug 15. Br J Haematol. 2021. PMID: 34396507
133 results