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

169 related items for PubMed ID: 817596

  • 21. Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
    Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF.
    J Biol Chem; 1990 Jun 05; 265(16):9452-7. PubMed ID: 2140574
    [Abstract] [Full Text] [Related]

  • 22.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 23. Adult-onset GM2 gangliosidosis diagnosed in a fetus.
    Navon R, Sandbank U, Frisch A, Baram D, Adam A.
    Prenat Diagn; 1986 Jun 05; 6(3):169-76. PubMed ID: 2941730
    [Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 25. Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.
    Burck U, Harzer K, Goebel HH, Elze KL, Held KR, Carstens L.
    Neuropadiatrie; 1980 May 05; 11(2):161-75. PubMed ID: 6255371
    [Abstract] [Full Text] [Related]

  • 26. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.
    Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K.
    EMBO J; 1983 May 05; 2(7):1201-5. PubMed ID: 6226523
    [Abstract] [Full Text] [Related]

  • 27. Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
    Sango K, McDonald MP, Crawley JN, Mack ML, Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K, Suzuki K, Proia RL.
    Nat Genet; 1996 Nov 05; 14(3):348-52. PubMed ID: 8896570
    [Abstract] [Full Text] [Related]

  • 28. Two abnormalities of hexosaminidase A in clinically normal individuals.
    Grebner EE, Mansfield DA, Raghavan SS, Kolodny EH, d'Azzo A, Neufeld EF, Jackson LG.
    Am J Hum Genet; 1986 Apr 05; 38(4):505-14. PubMed ID: 2939713
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
    Conzelmann E, Kytzia HJ, Navon R, Sandhoff K.
    Am J Hum Genet; 1983 Sep 05; 35(5):900-13. PubMed ID: 6614006
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
    Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanal N, Gravel RA.
    Hum Mol Genet; 1997 Oct 05; 6(11):1879-85. PubMed ID: 9302266
    [Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P, Khoo K, Isaacs C.
    Clin Genet; 1983 Sep 05; 24(3):206-15. PubMed ID: 6226462
    [Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
    Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB.
    Mol Genet Metab; 2011 Jan 05; 102(1):6-12. PubMed ID: 20926324
    [Abstract] [Full Text] [Related]

  • 38. Antigenic homology of feline and human beta-hexosaminidase.
    O'Neil DC, Bartholomew WR, Rattazzi MC.
    Biochim Biophys Acta; 1979 Sep 29; 580(1):1-9. PubMed ID: 94833
    [Abstract] [Full Text] [Related]

  • 39. Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
    Agmon V, Khosravi R, Marchesini S, Dinur T, Dagan A, Gatt S, Navon R.
    Clin Chim Acta; 1996 Mar 29; 247(1-2):105-20. PubMed ID: 8920231
    [Abstract] [Full Text] [Related]

  • 40. Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts.
    Espejo-Mojica AJ, Rodríguez-López A, Li R, Zheng W, Alméciga-Díaz CJ, Dulcey-Sepúlveda C, Combariza G, Barrera LA.
    Am J Med Genet C Semin Med Genet; 2020 Dec 29; 184(4):885-895. PubMed ID: 33111489
    [Abstract] [Full Text] [Related]

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