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A novel pathogenic variant in LCAT causing FLD. A case report.
Goñi Ros N, González-Tarancón R, Sienes Bailo P, Salvador-Ruperez E, Puzo Bayod M, Puzo Foncillas J. Goñi Ros N, et al. Among authors: salvador ruperez e. Acta Clin Belg. 2022 Dec;77(6):970-975. doi: 10.1080/17843286.2021.2007598. Epub 2021 Nov 18. Acta Clin Belg. 2022. PMID: 34789074
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
González-Tarancón R, Salvador-Rupérez E, Miramar Gallart MD, Barroso E, Díez García-Prieto I, Pérez Delgado R, López Pisón J, García Jiménez MC. González-Tarancón R, et al. Among authors: salvador ruperez e. Acta Clin Belg. 2022 Feb;77(1):118-121. doi: 10.1080/17843286.2020.1780391. Epub 2020 Jun 16. Acta Clin Belg. 2022. PMID: 32543299
Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.
González-Tarancón R, Goñi-Ros N, Salvador-Rupérez E, Hernández-Martín Á, Izquierdo-Álvarez S, Puzo-Foncillas J, Gilaberte-Calzada Y. González-Tarancón R, et al. Among authors: salvador ruperez e. JMIR Dermatol. 2023 Jun 27;6:e39567. doi: 10.2196/39567. JMIR Dermatol. 2023. PMID: 37632926 Free PMC article.