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Results: 1 to 20 of 122

Similar articles for PubMed (Select 8062438)

1.

The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred.

Chaabani H, Hadj-Khlil A, Ben-Dhia N, Braham H.

Clin Genet. 1994 Apr;45(4):194-9.

PMID:
8062438
2.

The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases.

Caruana RJ, Buckalew VM Jr.

Medicine (Baltimore). 1988 Mar;67(2):84-99.

PMID:
3127650
3.

Familial absorptive hypercalciuria and renal tubular acidosis.

Hamed IA, Czerwinski AW, Coats B, Kaufman C, Altmiller DH.

Am J Med. 1979 Sep;67(3):385-91.

PMID:
224701
4.

Familial pure proximal renal tubular acidosis--a clinical and genetic study.

Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E.

Nephrol Dial Transplant. 2008 Apr;23(4):1211-5. Epub 2007 Sep 19.

5.

Distal renal tubular acidosis and hereditary elliptocytosis in a single family.

Thong MK, Tan AA, Lin HP.

Singapore Med J. 1997 Sep;38(9):388-90.

PMID:
9407765
6.

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.

7.

Molecular basis of proximal renal tubular acidosis.

Igarashi T, Sekine T, Watanabe H.

J Nephrol. 2002 Mar-Apr;15 Suppl 5:S135-41. Review.

PMID:
12027212
8.

Distal renal tubular acidosis and the potassium enigma.

Batlle D, Moorthi KM, Schlueter W, Kurtzman N.

Semin Nephrol. 2006 Nov;26(6):471-8. Review. Erratum in: Semin Nephrol. 2007 May;27(3):373.

PMID:
17275585
9.

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome.

Wassif WS, Farnebo F, Teh BT, Moniz CF, Li FY, Harrison JD, Peters TJ, Larsson C, Harris P.

Clin Endocrinol (Oxf). 1999 Feb;50(2):191-6.

PMID:
10396361
10.

Evaluation of failure to thrive: diagnostic yield of testing for renal tubular acidosis.

Adedoyin O, Gottlieb B, Frank R, Vento S, Vergara M, Gauthier B, Trachtman H.

Pediatrics. 2003 Dec;112(6 Pt 1):e463.

PMID:
14654646
11.

Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

Sritippayawan S, Sumboonnanonda A, Vasuvattakul S, Keskanokwong T, Sawasdee N, Paemanee A, Thuwajit P, Wilairat P, Nimmannit S, Malasit P, Yenchitsomanus PT.

Am J Kidney Dis. 2004 Jul;44(1):64-70.

PMID:
15211439
12.

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM.

Clin Endocrinol (Oxf). 2001 Aug;55(2):163-74.

PMID:
11531922
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.

14.

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

Zakzouk SM, Sobki SH, Mansour F, al Anazy FH.

J Laryngol Otol. 1995 Oct;109(10):930-4.

PMID:
7499943
15.

Renal tubular acidosis.

Edelmann CM Jr.

Birth Defects Orig Artic Ser. 1974;10(4):100-3.

PMID:
4470883
16.

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
17.

Familial proximal renal tubular acidosis. A distinct clinical entity.

Brenes LG, Brenes JN, Hernandez MM.

Am J Med. 1977 Aug;63(2):244-52.

PMID:
888846
18.

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M.

Ophthalmology. 1998 Sep;105(9):1698-707.

PMID:
9754180
19.

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.

Magen D, Adler L, Mandel H, Efrati E, Zelikovic I.

Am J Kidney Dis. 2004 Apr;43(4):600-6.

PMID:
15042536
20.
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