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Page 1
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: claverie martin f. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramírez A, Fraga-Rodríguez GM, Luis-Yanes MI, Ramos-Trujillo E; Grupo RenalTube. Garcia-Nieto VM, et al. Among authors: claverie martin f. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):23-31. doi: 10.1016/j.nefroe.2024.02.003. Epub 2024 Feb 12. Nefrologia (Engl Ed). 2024. PMID: 38350738 Free article. Review.
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.
Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JGJ, de Baaij JHF. Bosman W, et al. Among authors: claverie martin f. Clin Kidney J. 2024 Jul 5;17(8):sfae211. doi: 10.1093/ckj/sfae211. eCollection 2024 Aug. Clin Kidney J. 2024. PMID: 39099563 Free PMC article.
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.
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: claverie martin f. Int J Mol Sci. 2023 May 8;24(9):8455. doi: 10.3390/ijms24098455. Int J Mol Sci. 2023. PMID: 37176161 Free PMC article.
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. Among authors: claverie martin f. 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.
83 results