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28. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. Proc Natl Acad Sci U S A; 1983 May; 80(9):2752-6. PubMed ID: 6405388 [Abstract] [Full Text] [Related]
29. 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. PubMed ID: 11045400 [Abstract] [Full Text] [Related]
30. Carbonic anhydrase isoenzyme B in erythrocytes of anemic and non-anemic uremic subjects. Anker N, Mondrup M. Clin Chim Acta; 1977 Sep 01; 79(2):341-7. PubMed ID: 408056 [Abstract] [Full Text] [Related]
31. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Nance WE, Sweeney A. Birth Defects Orig Artic Ser; 1971 Mar 01; 07(4):70-2. PubMed ID: 5173352 [Abstract] [Full Text] [Related]
33. Distal renal tubular acidosis and hereditary elliptocytosis in a single family. Thong MK, Tan AA, Lin HP. Singapore Med J; 1997 Sep 01; 38(9):388-90. PubMed ID: 9407765 [Abstract] [Full Text] [Related]
34. Hereditary distal renal tubular acidosis: new understandings. Batlle D, Ghanekar H, Jain S, Mitra A. Annu Rev Med; 2001 Sep 01; 52():471-84. PubMed ID: 11160790 [Abstract] [Full Text] [Related]
35. Effect of metabolic acidosis on hydrogen ion excretion in a pigtail macaque with erythrocyte carbonic anhydrase I deficiency. Ferrell RE, Osborne WR, Tashian RE. Proc Soc Exp Biol Med; 1981 Nov 01; 168(2):155-8. PubMed ID: 6815658 [No Abstract] [Full Text] [Related]
36. [Infantile transitory distal renal tubular acidosis with bicarbonate loss]. Schabel F, Irnberger E. Padiatr Padol; 1985 Nov 01; 20(4):353-62. PubMed ID: 2867514 [Abstract] [Full Text] [Related]
38. Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. Pathare G, Dhayat NA, Mohebbi N, Wagner CA, Bobulescu IA, Moe OW, Fuster DG. Kidney Int; 2018 Apr 01; 93(4):871-880. PubMed ID: 29310826 [Abstract] [Full Text] [Related]
39. Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. Hu PY, Ernst AR, Sly WS, Venta PJ, Skaggs LA, Tashian RE. Am J Hum Genet; 1994 Apr 01; 54(4):602-8. PubMed ID: 8128957 [Abstract] [Full Text] [Related]
40. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Sethi SK, Singh N, Gil H, Bagga A. Indian Pediatr; 2009 May 01; 46(5):425-7. PubMed ID: 19478356 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]