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Journal Abstract Search

184 related items for PubMed ID: 1904705

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  • 4. 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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  • 6. [Osteopetrosis and renal acidosis: a new case of this rare syndrome].
    Ruffa G, Milanaccio C, Sbolgi P, Levato GL, Bartocci M, Galasso V, Bruschettini PL.
    Minerva Pediatr; 1995 Apr 18; 47(4):135-40. PubMed ID: 7643812
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  • 7. The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.
    Al Rajeh S, el Mouzan MI, Ahlberg A, Ozaksoy D.
    Neuropediatrics; 1988 Aug 18; 19(3):162-5. PubMed ID: 3221988
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  • 8. The neurology of carbonic anhydrase type II deficiency syndrome.
    Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.
    Brain; 2011 Dec 18; 134(Pt 12):3502-15. PubMed ID: 22120147
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  • 10. 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 Dec 18; 1(4):288-92. PubMed ID: 1301935
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  • 11. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?
    Sh Ali AA, Al-Mashta SA.
    Saudi J Kidney Dis Transpl; 2013 May 18; 24(3):561-5. PubMed ID: 23640632
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  • 12. Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
    Cumming WA, Ohlsson A.
    Radiology; 1985 Nov 18; 157(2):325-7. PubMed ID: 2413500
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  • 13. 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 Nov 18; 5(4):348-50. PubMed ID: 7627193
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  • 14. Carbonic anhydrase II deficiency a novel mutation.
    Nampoothiri S, Anikster Y.
    Indian Pediatr; 2009 Jun 18; 46(6):532-4. PubMed ID: 19556665
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  • 15. 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 18; 3(4):385-8. PubMed ID: 3146897
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  • 16. 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 18; 80(9):2752-6. PubMed ID: 6405388
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  • 17. Carbonic anhydrase II deficiency.
    Whyte MP.
    Bone; 2023 Apr 18; 169():116684. PubMed ID: 36709914
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  • 18. [Kidney tubular transport disorders. Carbonic anhydrase II deficiency].
    Yabuta K.
    Nihon Rinsho; 1989 Jul 18; 47(7):1646-8. PubMed ID: 2509763
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  • 19. Long-term follow up of carbonic anhydrase II deficiency syndrome.
    Awad M, Al-Ashwal AA, Sakati N, Al-Abbad AA, Bin-Abbas BS.
    Saudi Med J; 2002 Jan 18; 23(1):25-9. PubMed ID: 11938359
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