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Journal Abstract Search

258 related items for PubMed ID: 30773598

  • 1. 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.
    Nephrol Dial Transplant; 2019 Jun 01; 34(6):981-991. PubMed ID: 30773598
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  • 2. Clinical and molecular aspects of distal renal tubular acidosis in children.
    Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D.
    Pediatr Nephrol; 2017 Jun 01; 32(6):987-996. PubMed ID: 28188436
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  • 4. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
    Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S.
    Kidney Int; 2017 May 01; 91(5):1243-1255. PubMed ID: 28233610
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  • 5. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
    Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A.
    Curr Res Transl Med; 2016 May 01; 64(1):5-8. PubMed ID: 27140593
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  • 6. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
    Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC.
    Clin Genet; 2006 Feb 01; 69(2):135-44. PubMed ID: 16433694
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  • 8. Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
    Liu J, Shen Q, Li G, Zhai Y, Fang X, Xu H.
    Ren Fail; 2018 Nov 01; 40(1):520-526. PubMed ID: 30230413
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  • 9. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
    Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA.
    Clin Genet; 2013 Mar 01; 83(3):274-8. PubMed ID: 22509993
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  • 10. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
    Mohebbi N, Wagner CA.
    J Nephrol; 2018 Aug 01; 31(4):511-522. PubMed ID: 28994037
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  • 11. Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
    Gao Y, Xu Y, Li Q, Lang Y, Dong Q, Shao L.
    Ren Fail; 2014 Sep 01; 36(8):1226-32. PubMed ID: 24975934
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  • 15. ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.
    Dahmani M, Talbi S, Ammar-Khodja F, Ouhab S, Boudjenah F, Djebbar M, Bonnet C, Petit C.
    Int J Pediatr Otorhinolaryngol; 2020 Feb 01; 129():109772. PubMed ID: 31733597
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  • 18. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.
    Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall'Anese C, Ariceta G, Castaño L, Madariaga L.
    Pediatr Nephrol; 2021 Oct 01; 36(10):3133-3142. PubMed ID: 33881640
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  • 19. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
    Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y.
    J Laryngol Otol; 2008 Feb 01; 122(2):193-8. PubMed ID: 17669226
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  • 20. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
    Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G.
    BMC Med Genet; 2013 Nov 20; 14():119. PubMed ID: 24252324
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