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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.
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.
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. Eur J Pediatr. 2015 Oct;174(10):1373-85. doi: 10.1007/s00431-015-2534-4. Epub 2015 Apr 23. Eur J Pediatr. 2015. PMID: 25902753
Can acetazolamide be used to treat diseases involving increased bone mineral density?
González-Rodríguez JD, Luis-Yanes MI, Inglés-Torres E, Arango-Sancho P, Cabrera-Sevilla JE, Duque-Fernández MR, Gil-Sánchez S, García-Nieto VM. González-Rodríguez JD, et al. Intractable Rare Dis Res. 2016 Nov;5(4):284-289. doi: 10.5582/irdr.2016.01067. Intractable Rare Dis Res. 2016. PMID: 27904825 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
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.
Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method.
González-Lamuño D, Lorente Rodríguez A, Luis Yanes MI, Marín-Del Barrio S, Martínez Díaz-Guerra G, Peris P. González-Lamuño D, et al. Among authors: luis yanes mi. Med Clin (Barc). 2022 Aug 12;159(3):152.e1-152.e12. doi: 10.1016/j.medcli.2021.07.029. Epub 2021 Dec 23. Med Clin (Barc). 2022. PMID: 34953573 Free article. English, Spanish.
56 results