These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

161 related items for PubMed ID: 3920916

  • 1. 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
    [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 18; 313(3):139-45. PubMed ID: 3925334
    [Abstract] [Full Text] [Related]

  • 3. 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 18; 19(10):1033-6. PubMed ID: 3932950
    [Abstract] [Full Text] [Related]

  • 4. 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 Oct 18; 20(6):447-52. PubMed ID: 1925679
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. [Kidney tubular transport disorders. Carbonic anhydrase II deficiency].
    Yabuta K.
    Nihon Rinsho; 1989 Jul 18; 47(7):1646-8. PubMed ID: 2509763
    [No Abstract] [Full Text] [Related]

  • 9. [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 Jul 18; 42(2):121-8. PubMed ID: 3112731
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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 18; 54(4):602-8. PubMed ID: 8128957
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Carbonic anhydrase II deficiency.
    Whyte MP.
    Bone; 2023 Apr 18; 169():116684. PubMed ID: 36709914
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.
    Sundaram V, Rumbolo P, Grubb J, Strisciuglio P, Sly WS.
    Am J Hum Genet; 1986 Feb 18; 38(2):125-36. PubMed ID: 3080873
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 24(3):272. PubMed ID: 15300855
    [Abstract] [Full Text] [Related]

  • 17. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.
    Sly WS, Sato S, Zhu XL.
    Clin Biochem; 1991 Aug 18; 24(4):311-8. PubMed ID: 1959222
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.