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Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat.
García-Nieto VM, Claverie-Martín F, Moraleda-Mesa T, Perdomo-Ramírez A, Tejera-Carreño P, Cordoba-Lanus E, Luis-Yanes MI, Ramos-Trujillo E; RenalTube Group. García-Nieto VM, et al. Nefrologia (Engl Ed). 2022 May-Jun;42(3):273-279. doi: 10.1016/j.nefroe.2022.05.007. Epub 2022 Jun 3. Nefrologia (Engl Ed). 2022. PMID: 36210617 Free article. Review.
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R; RenalTube Group. Claverie-Martín F, et al. PLoS One. 2013;8(1):e53151. doi: 10.1371/journal.pone.0053151. Epub 2013 Jan 3. PLoS One. 2013. PMID: 23301036 Free PMC article.
Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.
Ramos-Trujillo E, Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A; RenalTube Group. Ramos-Trujillo E, et al. J Pediatr Genet. 2013 Sep;2(3):133-40. doi: 10.3233/PGE-13061. J Pediatr Genet. 2013. PMID: 27625851 Free PMC article.
Prevalence of URAT1 allelic variants in the Roma population.
Stiburkova B, Gabrikova D, Čepek P, Šimek P, Kristian P, Cordoba-Lanus E, Claverie-Martin F. Stiburkova B, et al. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):529-535. doi: 10.1080/15257770.2016.1168839. Nucleosides Nucleotides Nucleic Acids. 2016. PMID: 27906637
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F, Trujillo-Suarez J, Gonzalez-Acosta H, Aparicio C, Justa Roldan ML, Stiburkova B, Ichida K, Martín-Gomez MA, Herrero Goñi M, Carrasco Hidalgo-Barquero M, Iñigo V, Enriquez R, Cordoba-Lanus E, Garcia-Nieto VM; RenalTube Group. Claverie-Martin F, et al. Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24. Clin Chim Acta. 2018. PMID: 29486147
Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat.
García-Nieto VM, Claverie-Martín F, Moraleda-Mesa T, Perdomo-Ramírez A, Tejera-Carreño P, Córdoba-Lanus E, Luis-Yanes MI, Ramos-Trujillo E; en representación del Grupo RenalTube. García-Nieto VM, et al. Nefrologia (Engl Ed). 2021 Sep 6:S0211-6995(21)00142-9. doi: 10.1016/j.nefro.2021.03.013. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34503865 Free article. Review. English, Spanish.
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Perdomo-Ramirez A, Cordoba-Lanus E, Trujillo-Frias CJ, Gonzalez-Navasa C, Ramos-Trujillo E, Luis-Yanes MI, Garcia-Nieto V, Claverie-Martin F; RenalTube. Perdomo-Ramirez A, et al. Among authors: cordoba lanus e. Int J Mol Sci. 2023 May 8;24(9):8455. doi: 10.3390/ijms24098455. Int J Mol Sci. 2023. PMID: 37176161 Free PMC article.
47 results