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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Trepiccione F, Walsh SB, Ariceta G, Boyer O, Emma F, Camilla R, Ferraro PM, Haffner D, Konrad M, Levtchenko E, Lopez-Garcia SC, Santos F, Stabouli S, Szczepanska M, Tasic V, Topaloglu R, Vargas-Poussou R, Wlodkowski T, Bockenhauer D. Trepiccione F, et al. Nephrol Dial Transplant. 2021 Aug 27;36(9):1585-1596. doi: 10.1093/ndt/gfab171. Nephrol Dial Transplant. 2021. PMID: 33914889
Distal renal tubular acidosis and ovalocytosis: a case report.
Jamard B, Allard J, Caron P, Corberand JX, Blanchard A, Vargas-Poussou R, El Mahou S, Constantin A, Cantagrel A, Mazières B, Laroche M. Jamard B, et al. Osteoporos Int. 2008 Jan;19(1):119-22. doi: 10.1007/s00198-007-0419-8. Epub 2007 Aug 10. Osteoporos Int. 2008. PMID: 17690931
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R. Brochard K, et al. Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18. Nephrol Dial Transplant. 2009. PMID: 19096086
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D. Ashton EJ, et al. Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15. Kidney Int. 2018. PMID: 29398133 Free article.
Distal renal tubular acidosis in two children with acquired hypothyroidism.
Guerra-Hernández NE, Ordaz-López KV, Vargas-Poussou R, Escobar-Pérez L, García-Nieto VM. Guerra-Hernández NE, et al. Nefrologia (Engl Ed). 2018 Nov-Dec;38(6):655-659. doi: 10.1016/j.nefro.2017.12.005. Epub 2018 Apr 30. Nefrologia (Engl Ed). 2018. PMID: 29716758 Free article. English, Spanish.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
99 results