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Page 1
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.
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, de Lucas-Collantes C, Gil M, Luis-Yanes MI, Vergara I, González-Rodríguez JD, Ferrando S, Antón-Gamero M, Carrasco Hidalgo-Barquero M, Fernández-Escribano A, Fernández-Maseda MÁ, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F; RenalTubeGroup. Rodríguez-Rubio E, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):104. doi: 10.1186/s13023-021-01729-0. Orphanet J Rare Dis. 2021. PMID: 33639975 Free PMC article.
Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia.
Hernández-Frías O, Gil-Peña H, Pérez-Roldán JM, González-Sanchez S, Ariceta G, Chocrón S, Loza R, de la Cerda Ojeda F, Madariaga L, Vergara I, Fernández-Fernández M, Ferrando-Monleón S, Antón-Gamero M, Fernández-Maseda Á, Luis-Yanes MI, Santos F. Hernández-Frías O, et al. Pediatr Nephrol. 2019 Jun;34(6):1077-1086. doi: 10.1007/s00467-018-4180-3. Epub 2019 Jan 4. Pediatr Nephrol. 2019. PMID: 30607568
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S. García-Castaño A, et al. PLoS One. 2020 Sep 30;15(9):e0239965. doi: 10.1371/journal.pone.0239965. eCollection 2020. PLoS One. 2020. PMID: 32997713 Free PMC article.
Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Rodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, de Lucas-Collantes C, Gil M, Luis-Yanes MI, Vergara I, González-Rodríguez JD, Ferrando S, Antón-Gamero M, Hidalgo-Barquero MC, Fernández-Escribano A, Fernández-Maseda MÁ, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F; RenalTubeGroup. Rodríguez-Rubio E, et al. Orphanet J Rare Dis. 2021 Apr 1;16(1):154. doi: 10.1186/s13023-021-01786-5. Orphanet J Rare Dis. 2021. PMID: 33794951 Free PMC article. No abstract available.
Chloride and sodium renal tubular handling in Dent's disease.
Antón-Gamero M, Claverie-Martín F, García-Nieto V, Vela-Enríquez F, García-Martínez E, Pérez-Navero JL. Antón-Gamero M, et al. Pediatr Nephrol. 2005 Aug;20(8):1198-9. doi: 10.1007/s00467-005-1875-z. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912380 No abstract available.
43 results