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Journal Abstract Search

209 related items for PubMed ID: 2413500

  • 1. 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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  • 2. 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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  • 3. 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 Jul 18; 20(6):447-52. PubMed ID: 1925679
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  • 4. 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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  • 5. [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 Mar 18; 42(2):121-8. PubMed ID: 3112731
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  • 6. [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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  • 7. 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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  • 8. 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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  • 9. Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
    Cotter M, Connell T, Colhoun E, Smith OP, McMahon C.
    J Pediatr Hematol Oncol; 2005 Feb 18; 27(2):115-7. PubMed ID: 15701991
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  • 18. Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.
    Ocal G, Berberoğlu M, Adiyaman P, Cetinkaya E, Ekim M, Aycan Z, Evliyaoğlu O.
    J Pediatr Endocrinol Metab; 2001 Feb 18; 14(9):1671-7. PubMed ID: 11795660
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  • 20. 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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