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Volumn 50, Issue 4, 1996, Pages 235-239

Siblings with congenital renal tubular acidosis and nerve deafness

Author keywords

Autosomal recessive; Consanguinity; Deafness; Renal tubular acidosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD ANALYSIS; CASE REPORT; DISEASE ASSOCIATION; FEMALE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; MALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030457022     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02634.x     Document Type: Article
Times cited : (7)

References (29)
  • 1
    • 0021326034 scopus 로고
    • Siblings with renal tubular acidosis and nerve deafness. the first family in Japan
    • Anai T, Yamamoto J, Matsuda I, Taniguchi N, Kondo T, Nagai B. Siblings with renal tubular acidosis and nerve deafness. The first family in Japan. Hum Genet 1984: 66: 282-285.
    • (1984) Hum Genet , vol.66 , pp. 282-285
    • Anai, T.1    Yamamoto, J.2    Matsuda, I.3    Taniguchi, N.4    Kondo, T.5    Nagai, B.6
  • 2
    • 0024827493 scopus 로고
    • Familial distal renal tubular acidosis with neurosensory deafness: Early nephrocalcinosis
    • Bentur L, Alon U, Mandel H, Pery M, Berant M. Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis. Am J Nephrol 1989: 9: 470-474.
    • (1989) Am J Nephrol , vol.9 , pp. 470-474
    • Bentur, L.1    Alon, U.2    Mandel, H.3    Pery, M.4    Berant, M.5
  • 4
    • 0026637039 scopus 로고
    • Primary distal tubular acidosis in childhood: Clinical study and long-term follow-up of 28 patients
    • Caldas A, Broyer M, Dechaux M, Kleinknecht C. Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients. J Pediatr 1992: 11: 233-241.
    • (1992) J Pediatr , vol.11 , pp. 233-241
    • Caldas, A.1    Broyer, M.2    Dechaux, M.3    Kleinknecht, C.4
  • 5
    • 0020660183 scopus 로고
    • Renal tubular acidosis
    • Chan JCM. Renal tubular acidosis. J Pediatr 1983: 102: 327-340.
    • (1983) J Pediatr , vol.102 , pp. 327-340
    • Chan, J.C.M.1
  • 6
    • 0025256072 scopus 로고
    • Acidose tubulaire rénale et surdité de perception. A propos d'une forme familiale
    • Paris
    • Chevallier B, Toulemonde V, Negre V, Lagardère B, Gallet JP. Acidose tubulaire rénale et surdité de perception. A propos d'une forme familiale. Ann Pédiatr (Paris) 1990: 37: 175-177.
    • (1990) Ann Pédiatr , vol.37 , pp. 175-177
    • Chevallier, B.1    Toulemonde, V.2    Negre, V.3    Lagardère, B.4    Gallet, J.P.5
  • 8
    • 0018860876 scopus 로고
    • Renal tubular acidosis and sensorineural deafness: An autosomal recessive syndrome
    • Cremers CWR, Monnens LAH, Marres EHMA. Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. Arch Otolaryngol 1980: 108: 287-289.
    • (1980) Arch Otolaryngol , vol.108 , pp. 287-289
    • Cremers, C.W.R.1    Monnens, L.A.H.2    Marres, E.H.M.A.3
  • 9
    • 0023506613 scopus 로고
    • Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness
    • De Chadarevian JP, Kaplan P, Vekemans M, Kaplan BS. Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness. Am J Med Genet 1987, 3: 323-328.
    • (1987) Am J Med Genet , vol.3 , pp. 323-328
    • De Chadarevian, J.P.1    Kaplan, P.2    Vekemans, M.3    Kaplan, B.S.4
  • 12
    • 0021941996 scopus 로고
    • Markschwammniere mit renal tubulrer Azidose und progrediente Innenohrschwerhrigkeit. Ein seltenes otorenales Syndrom
    • Ganser G, Zidek W, Kumpf W, Vetter H. Markschwammniere mit renal tubulrer Azidose und progrediente Innenohrschwerhrigkeit. Ein seltenes otorenales Syndrom. Medwelt 1985: 36: 285-287.
    • (1985) Medwelt , vol.36 , pp. 285-287
    • Ganser, G.1    Zidek, W.2    Kumpf, W.3    Vetter, H.4
  • 14
    • 0017655510 scopus 로고
    • Red blood cell carbonic anhydrase activity in children with renal tubular acidosis
    • Kaplan B, Mills M, Hecht M, Leblanc P. Red blood cell carbonic anhydrase activity in children with renal tubular acidosis. Pediatr Res 1977, 11:1039-1045.
    • (1977) Pediatr Res , vol.11 , pp. 1039-1045
    • Kaplan, B.1    Mills, M.2    Hecht, M.3    Leblanc, P.4
  • 15
    • 12644255293 scopus 로고
    • Renal tubular acidosis with progressive nerve deafness
    • Personal communication cited by McKusik, VA Baltimore: Johns Hopkins Press
    • Konigsmark BW. Renal tubular acidosis with progressive nerve deafness. Personal communication cited by McKusik, VA. In: Mendelian Inheritance in Man, 2nd edn. Baltimore: Johns Hopkins Press, 1968: 357.
    • (1968) Mendelian Inheritance in Man, 2nd Edn. , pp. 357
    • Konigsmark, B.W.1
  • 18
    • 0345019226 scopus 로고
    • The mutational load due to detrimental genes in man
    • Morton NE. The mutational load due to detrimental genes in man. Am J Hum Genet 1960: 12: 348-364.
    • (1960) Am J Hum Genet , vol.12 , pp. 348-364
    • Morton, N.E.1
  • 19
    • 0015020578 scopus 로고
    • Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness
    • Nance WE, Sweeney A. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Birth Defects 1971: 7, 4: 70-73.
    • (1971) Birth Defects , vol.7 , Issue.4 , pp. 70-73
    • Nance, W.E.1    Sweeney, A.2
  • 20
    • 0015338107 scopus 로고
    • Renal tubular acidosis in infants and children. Clinical course, response to treatment and prognosis
    • Nash MA, Torrado AD, Greifer I, Spitzer A, Edelmann CM. Renal tubular acidosis in infants and children. Clinical course, response to treatment and prognosis. J Pediatr 1972: 80: 738-748.
    • (1972) J Pediatr , vol.80 , pp. 738-748
    • Nash, M.A.1    Torrado, A.D.2    Greifer, I.3    Spitzer, A.4    Edelmann, C.M.5
  • 21
    • 0019982232 scopus 로고
    • Natural history of primary distal renal tubular acidosis treated since infancy
    • Rodriguez-Soriano J, Vallo A, Castillo G, Oliveros R. Natural history of primary distal renal tubular acidosis treated since infancy. J Pediatr 1982, 101: 669-676
    • (1982) J Pediatr , vol.101 , pp. 669-676
    • Rodriguez-Soriano, J.1    Vallo, A.2    Castillo, G.3    Oliveros, R.4
  • 24
    • 0026023198 scopus 로고
    • The syndrome of renal tubular acidosis and nerve deafness. Discordant manifestations in dizygotic twin brothers
    • Santos F, Rey C, Malaga S, Rodriguez LM, Orejas G. The syndrome of renal tubular acidosis and nerve deafness. Discordant manifestations in dizygotic twin brothers. Pediatr Nephrol 1991: 5: 235-237.
    • (1991) Pediatr Nephrol , vol.5 , pp. 235-237
    • Santos, F.1    Rey, C.2    Malaga, S.3    Rodriguez, L.M.4    Orejas, G.5
  • 25
    • 0015981329 scopus 로고
    • Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis
    • Shapira E, Ben-Yoseph Y, Eyal FG, Russel A. Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis. J Clin Invest 1974: 53: 59-63.
    • (1974) J Clin Invest , vol.53 , pp. 59-63
    • Shapira, E.1    Ben-Yoseph, Y.2    Eyal, F.G.3    Russel, A.4
  • 26
    • 0018425739 scopus 로고
    • The acidification defect in the syndrome of renal tubular acidosis with nerve deafness
    • Simon H, Orive B, Zamora I, Mendizabal S. The acidification defect in the syndrome of renal tubular acidosis with nerve deafness. Acta Pediatr Scand 1979: 68: 291-295.
    • (1979) Acta Pediatr Scand , vol.68 , pp. 291-295
    • Simon, H.1    Orive, B.2    Zamora, I.3    Mendizabal, S.4
  • 27
    • 0019162902 scopus 로고
    • Inherited variants of human red cell carbonic anhydrase
    • Tashian RE, Kendal AG, Carter ND. Inherited variants of human red cell carbonic anhydrase. Hemoglobin 1980: 4: 635-651.
    • (1980) Hemoglobin , vol.4 , pp. 635-651
    • Tashian, R.E.1    Kendal, A.G.2    Carter, N.D.3
  • 28
    • 0015020599 scopus 로고
    • Renal tubular acidosis and deafness
    • Walker WG. Renal tubular acidosis and deafness. Birth Defects 1971: 10/4: 126.
    • (1971) Birth Defects , vol.10 , Issue.4 , pp. 126
    • Walker, W.G.1
  • 29
    • 0016230558 scopus 로고
    • Syndrome of perceptive deafness and renal tubular acidosis
    • Walker WG, Ozer FL, Whelton A. Syndrome of perceptive deafness and renal tubular acidosis. Birth Defects 1974: 10/4: 163.
    • (1974) Birth Defects , vol.10 , Issue.4 , pp. 163
    • Walker, W.G.1    Ozer, F.L.2    Whelton, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.