BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 2499032)

  • 1. The role of carbonic anhydrase in autosomal dominant osteopetrosis.
    Bollerslev J; Mondrup MP
    Scand J Clin Lab Invest; 1989 Feb; 49(1):93-5. PubMed ID: 2499032
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 313(3):139-45. PubMed ID: 3925334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The determination of osteopetrotic phenotypes by selective inactivation of red cell carbonic anhydrase isoenzymes.
    Conroy CW; Maren TH
    Clin Chim Acta; 1985 Nov; 152(3):347-54. PubMed ID: 3933860
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Carbonic anhydrase isozymes of osteoclasts and erythrocytes of osteopetrotic microphthalmic mice.
    Jilka RL; Rogers JI; Khalifah RG; Vaananen HK
    Bone; 1985; 6(6):445-9. PubMed ID: 3938292
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 20(6):447-52. PubMed ID: 1925679
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.
    Sly WS; Sato S; Zhu XL
    Clin Biochem; 1991 Aug; 24(4):311-8. PubMed ID: 1959222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 11(5):633-6. PubMed ID: 9323296
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case report 718. Osteopetrosis with carbonic anhydrase II deficiency.
    Eddy R; Resendes M; Genant H
    Skeletal Radiol; 1992; 21(2):135-6. PubMed ID: 1566113
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Type II autosomal dominant osteopetrosis.
    Senel K; Ugur M; Erdal A; Ozdemir H
    Rheumatol Int; 2002 Jul; 22(3):116-8. PubMed ID: 12111087
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 3(4):385-8. PubMed ID: 3146897
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II.
    Gram J; Antonsen S; Hørder M; Bollerslev J
    Calcif Tissue Int; 1991 Jun; 48(6):438-9. PubMed ID: 2070279
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 1(4):288-92. PubMed ID: 1301935
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant osteopetrosis: an otoneurological investigation of the two radiological types.
    Bollerslev J; Grøntved A; Andersen PE
    Laryngoscope; 1988 Apr; 98(4):411-3. PubMed ID: 3352441
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients.
    Sato S; Zhu XL; Sly WS
    Proc Natl Acad Sci U S A; 1990 Aug; 87(16):6073-6. PubMed ID: 2117271
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Carbonic anhydrase isoenzyme B in erythrocytes of subjects with chronic acidosis.
    Mondrup M; Anker N
    Clin Chim Acta; 1979 Mar; 92(3):361-6. PubMed ID: 108037
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carbonic anhydrase isoenzyme B in erythrocytes of anemic and non-anemic uremic subjects.
    Anker N; Mondrup M
    Clin Chim Acta; 1977 Sep; 79(2):341-7. PubMed ID: 408056
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 16(6):982-90. PubMed ID: 8127074
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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; 42(2):121-8. PubMed ID: 3112731
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 24(3):561-5. PubMed ID: 23640632
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.