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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Among authors: figueroa av. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Diagnostic criteria for acute FPIES: What are we missing?
Vazquez-Ortiz M, Argiz L, Machinena A, Echeverria L, Blasco C, Prieto A, Infante S, Vila L, Garcia E, Gonzalez-Delgado P, Vazquez-Cortes S, Barni S, Martinon-Torres F; BIO-FPIES study network. Vazquez-Ortiz M, et al. J Allergy Clin Immunol Pract. 2020 May;8(5):1717-1720.e2. doi: 10.1016/j.jaip.2019.11.034. Epub 2019 Dec 9. J Allergy Clin Immunol Pract. 2020. PMID: 31821916 No abstract available.