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Items: 1 to 20 of 230

1.

Genetic causes and mechanisms of distal renal tubular acidosis.

Batlle D, Haque SK.

Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Review.

PMID:
23114896
2.

Hereditary distal renal tubular acidosis: new understandings.

Batlle D, Ghanekar H, Jain S, Mitra A.

Annu Rev Med. 2001;52:471-84. Review.

PMID:
11160790
3.

Familial renal tubular acidosis.

Alper SL.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Review.

PMID:
21170890
4.

Genetic diseases of acid-base transporters.

Alper SL.

Annu Rev Physiol. 2002;64:899-923. Review.

PMID:
11826292
5.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.

J Med Genet. 2003 Feb;40(2):115-21.

6.

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. doi: 10.1111/j.1399-0004.2012.01891.x. Epub 2012 May 11.

PMID:
22509993
7.

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S.

Am J Kidney Dis. 2002 Jul;40(1):21-9.

PMID:
12087557
8.

The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene.

Bruce LJ, Unwin RJ, Wrong O, Tanner MJ.

Biochem Cell Biol. 1998;76(5):723-8. Review.

PMID:
10353704
9.

[Primary distal renal tubular acidosis].

Bouzidi H, Daudon M, Najjar MF.

Ann Biol Clin (Paris). 2009 Mar-Apr;67(2):135-40. doi: 10.1684/abc.2009.0307. Review. French.

10.

Human anion exchanger1 mutations and distal renal tubular acidosis.

Yenchitsomanus PT.

Southeast Asian J Trop Med Public Health. 2003 Sep;34(3):651-8. Review.

PMID:
15115146
11.

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. doi: 10.1186/1471-2350-14-119.

12.
13.

Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.

Shayakul C, Jarolim P, Zachlederova M, Prabakaran D, Cortez-Campeao D, Kalabova D, Stuart-Tilley AK, Ideguchi H, Haller C, Alper SL.

Nephrol Dial Transplant. 2004 Feb;19(2):371-9.

PMID:
14736961
14.
15.

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL.

J Biol Chem. 1998 Mar 13;273(11):6380-8.

16.

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;32(6):987-996. doi: 10.1007/s00467-016-3573-4. Epub 2017 Feb 10. Erratum in: Pediatr Nephrol. 2017 Jun;32(6):1095.

PMID:
28188436
17.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A.

J Am Soc Nephrol. 2006 May;17(5):1437-43. Epub 2006 Apr 12.

18.

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

Rodríguez-Soriano J.

Pediatr Nephrol. 2000 Oct;14(12):1121-36. Review.

PMID:
11045400
19.

Secretory-defect distal renal tubular acidosis is associated with transporter defect in H(+)-ATPase and anion exchanger-1.

Han JS, Kim GH, Kim J, Jeon US, Joo KW, Na KY, Ahn C, Kim S, Lee SE, Lee JS.

J Am Soc Nephrol. 2002 Jun;13(6):1425-32.

20.

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S.

Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160. Epub 2009 Apr 13.

PMID:
19364879

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