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Journal Abstract Search

130 related items for PubMed ID: 2509763

  • 1. [Kidney tubular transport disorders. Carbonic anhydrase II deficiency].
    Yabuta K.
    Nihon Rinsho; 1989 Jul; 47(7):1646-8. PubMed ID: 2509763
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  • 5. [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; 48(3):211-4. PubMed ID: 1904705
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  • 7. Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
    Cumming WA, Ohlsson A.
    Radiology; 1985 Nov; 157(2):325-7. PubMed ID: 2413500
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  • 8. Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency.
    Krupin T, Sly WS, Whyte MP, Dodgson SJ.
    Am J Ophthalmol; 1985 Apr 15; 99(4):396-9. PubMed ID: 3920916
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  • 9. Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency.
    Repetto HA.
    Pediatr Nephrol; 1998 Apr 15; 12(3):261. PubMed ID: 9630052
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  • 10. Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).
    Whyte MP, Hamm LL, Sly WS.
    J Bone Miner Res; 1988 Aug 15; 3(4):385-8. PubMed ID: 3146897
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  • 12. Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).
    Schwartz GJ, Brion LP, Corey HE, Dorfman HD.
    Skeletal Radiol; 1991 Aug 15; 20(6):447-52. PubMed ID: 1925679
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  • 14. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
    Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS.
    Hum Mutat; 2004 Sep 15; 24(3):272. PubMed ID: 15300855
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  • 15. Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency.
    Sly WS, Whyte MP, Krupin T, Sundaram V.
    Pediatr Res; 1985 Oct 15; 19(10):1033-6. PubMed ID: 3932950
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  • 16. 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 15; 54(4):602-8. PubMed ID: 8128957
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  • 17. Renal tubular acidosis and osteopetrosis.
    Donckerwolcke R, Stone P.
    Pediatr Nephrol; 1999 Feb 15; 13(2):180. PubMed ID: 10229010
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  • 20. Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).
    Soda H, Yukizane S, Yoshida I, Aramaki S, Kato H.
    Hum Mutat; 1995 Feb 15; 5(4):348-50. PubMed ID: 7627193
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