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Journal Abstract Search

349 related items for PubMed ID: 3925334

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  • 2. 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; 80(9):2752-6. PubMed ID: 6405388
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  • 10. 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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  • 11. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
    Lotan D, Eisenkraft A, Jacobsson JM, Bar-Yosef O, Kleta R, Gal N, Raviv-Zilka L, Gore H, Anikster Y.
    Pediatr Nephrol; 2006 Mar; 21(3):423-6. PubMed ID: 16382316
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  • 12. Carbonic anhydrase II deficiency a novel mutation.
    Nampoothiri S, Anikster Y.
    Indian Pediatr; 2009 Jun; 46(6):532-4. PubMed ID: 19556665
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  • 13. Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.
    McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP.
    Blood; 2001 Apr 01; 97(7):1947-50. PubMed ID: 11264157
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  • 14. 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 01; 3(4):385-8. PubMed ID: 3146897
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  • 15. Carbonic anhydrase II deficiency.
    Whyte MP.
    Bone; 2023 Apr 01; 169():116684. PubMed ID: 36709914
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  • 16. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.
    Sly WS, Sato S, Zhu XL.
    Clin Biochem; 1991 Aug 01; 24(4):311-8. PubMed ID: 1959222
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  • 17. 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 01; 54(4):602-8. PubMed ID: 8128957
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  • 18. 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 01; 24(3):272. PubMed ID: 15300855
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