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Journal Abstract Search

153 related items for PubMed ID: 4202671

  • 1. Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis.
    Shapira E, Ben-Yoseph Y, Eyal FG, Russell A.
    J Clin Invest; 1974 Jan; 53(1):59-63. PubMed ID: 4202671
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  • 2. Red blood cell carbonic anhydrase activity in children with distal renal tubular acidosis.
    Kaplan BS, Mills M, Hechtman P, Leblanc D.
    Pediatr Res; 1977 Oct; 11(10 Pt 1):1039-42. PubMed ID: 409983
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  • 4. 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.
    Hum Genet; 1984 Oct; 66(2-3):282-5. PubMed ID: 6425198
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  • 5. 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. PubMed ID: 17881426
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  • 6. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
    Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M.
    N Engl J Med; 1985 Jul 18; 313(3):139-45. PubMed ID: 3925334
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  • 8. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
    Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS.
    Hum Mutat; 1992 Jul 18; 1(4):288-92. PubMed ID: 1301935
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  • 11. [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].
    Cochat P, Loras-Duclaux I, Guibaud P.
    Pediatrie; 1987 Jul 18; 42(2):121-8. PubMed ID: 3112731
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  • 14. Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.
    Ohlsson A, Cumming WA, Paul A, Sly WS.
    Pediatrics; 1986 Mar 18; 77(3):371-81. PubMed ID: 3081869
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  • 18. Carbonic anhydrase II deficiency in three unrelated Japanese patients.
    Aramaki S, Yoshida I, Yoshino M, Kondo M, Sato Y, Noda K, Jo R, Okue A, Sai N, Yamashita F.
    J Inherit Metab Dis; 1993 Mar 18; 16(6):982-90. PubMed ID: 8127074
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  • 19. Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification.
    Nagai R, Kooh SW, Balfe JW, Fenton T, Halperin ML.
    Pediatr Nephrol; 1997 Oct 18; 11(5):633-6. PubMed ID: 9323296
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  • 20. [Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].
    Bejaoui M, Kamoun A, Baraket M, Bourguiba H, Lakhoua R.
    Arch Fr Pediatr; 1991 Mar 18; 48(3):211-4. PubMed ID: 1904705
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