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Journal Abstract Search

526 related items for PubMed ID: 28994037

  • 1. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
    Mohebbi N, Wagner CA.
    J Nephrol; 2018 Aug; 31(4):511-522. PubMed ID: 28994037
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  • 2. 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; 83(3):274-8. PubMed ID: 22509993
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  • 3. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
    Zhao X, Lu J, Gao Y, Wang X, Lang Y, Shao L.
    BMC Nephrol; 2018 Dec 17; 19(1):364. PubMed ID: 30558562
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  • 5. 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 17; 32(6):987-996. PubMed ID: 28188436
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  • 6. Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
    Park E, Cho MH, Hyun HS, Shin JI, Lee JH, Park YS, Choi HJ, Kang HG, Cheong HI.
    Kidney Blood Press Res; 2018 Jun 17; 43(2):513-521. PubMed ID: 29627839
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  • 7. 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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  • 9. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
    Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F, RenalTube Group.
    Pediatr Nephrol; 2018 Sep 20; 33(9):1523-1529. PubMed ID: 29725771
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  • 10. A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
    Anupama PH, Abraham G, Shanmugasundaram L, Anupama SH.
    Saudi J Kidney Dis Transpl; 2019 Sep 20; 30(6):1442-1446. PubMed ID: 31929293
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  • 13. 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 20; 36(10):3133-3142. PubMed ID: 33881640
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  • 17. 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 20; 36(8):1226-32. PubMed ID: 24975934
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  • 18. Distal renal tubular acidosis: genetic causes and management.
    Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simões E Silva AC.
    World J Pediatr; 2019 Oct 20; 15(5):422-431. PubMed ID: 31079338
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  • 20. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
    Saito T, Hayashi D, Shibata S, Jogamoto M, Kamoda T.
    Eur J Pediatr; 2010 Oct 20; 169(10):1271-3. PubMed ID: 20221774
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