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Journal Abstract Search

175 related items for PubMed ID: 12629750

  • 1. [PNP (purine nucleoside phosphorylase) deficiency].
    Taniguchi A.
    Nihon Rinsho; 2003 Jan; 61 Suppl 1():372-6. PubMed ID: 12629750
    [No Abstract] [Full Text] [Related]

  • 2. [Purine nucleoside phosphorylase (PNP) deficiency].
    Sumi S, Wada Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Jan; (18 Pt 1):458-9. PubMed ID: 9590100
    [No Abstract] [Full Text] [Related]

  • 3.
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  • 4. [Hypouricemia--definition and classification].
    Fujimori S.
    Nihon Rinsho; 2003 Jan; 61 Suppl 1():353-6. PubMed ID: 12629745
    [No Abstract] [Full Text] [Related]

  • 5. A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
    Al-Saud B, Al Alawi Z, Hussain FB, Hershfield M, Alkuraya FS, Al-Mayouf SM.
    J Clin Immunol; 2020 Aug; 40(6):833-839. PubMed ID: 32514656
    [Abstract] [Full Text] [Related]

  • 6. Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge.
    Watson AR, Simmonds HA, Webster DR, Layward L, Evans DI.
    Adv Exp Med Biol; 1984 Aug; 165 Pt A():53-9. PubMed ID: 6426259
    [No Abstract] [Full Text] [Related]

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  • 8. Immunodeficiencies associated with errors in purine metabolism.
    Edwards NL.
    Med Clin North Am; 1985 May; 69(3):505-18. PubMed ID: 3925260
    [Abstract] [Full Text] [Related]

  • 9. Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
    Baguette C, Vermylen C, Brichard B, Louis J, Dahan K, Vincent MF, Cornu G.
    J Pediatr Hematol Oncol; 2002 Jan; 24(1):69-71. PubMed ID: 11902746
    [Abstract] [Full Text] [Related]

  • 10. Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
    Grunebaum E, Campbell N, Leon-Ponte M, Xu X, Chapdelaine H.
    Front Immunol; 2020 Jan; 11():1257. PubMed ID: 32695102
    [Abstract] [Full Text] [Related]

  • 11. [Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
    Iwahana H, Itakura M.
    Nihon Rinsho; 1996 Dec; 54(12):3303-8. PubMed ID: 8976110
    [Abstract] [Full Text] [Related]

  • 12. Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism.
    Edwards NL, Gelfand EW, Biggar D, Fox IH.
    J Lab Clin Med; 1978 May; 91(5):736-49. PubMed ID: 417142
    [No Abstract] [Full Text] [Related]

  • 13. [Purine nucleoside phosphorylase (PNP)].
    Sakiyama T.
    Nihon Rinsho; 1996 Dec; 54(12):3220-5. PubMed ID: 8976095
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice.
    Arpaia E, Benveniste P, Di Cristofano A, Gu Y, Dalal I, Kelly S, Hershfield M, Pandolfi PP, Roifman CM, Cohen A.
    J Exp Med; 2000 Jun 19; 191(12):2197-208. PubMed ID: 10859343
    [Abstract] [Full Text] [Related]

  • 15. Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.
    Hallett RJ, Cronin SM, Morgan G, Duley JA, Fairbanks LD, Simmonds HA.
    Adv Exp Med Biol; 1994 Jun 19; 370():387-9. PubMed ID: 7544949
    [No Abstract] [Full Text] [Related]

  • 16. [PNP deficiency].
    Sato T, Wakabayashi Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 19; (21 Pt 2):228-31. PubMed ID: 9833477
    [No Abstract] [Full Text] [Related]

  • 17. The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
    Fekrvand S, Yazdani R, Abolhassani H, Ghaffari J, Aghamohammadi A.
    Immunol Invest; 2019 May 19; 48(4):410-430. PubMed ID: 30885031
    [Abstract] [Full Text] [Related]

  • 18. Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families.
    Wortmann RL, Andres C, Kaminska J, Mejias E, Gelfand E, Arnold W, Rich K, Fox IH.
    Arthritis Rheum; 1979 May 19; 22(5):524-31. PubMed ID: 36100
    [Abstract] [Full Text] [Related]

  • 19. Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
    Torun B, Bilgin A, Orhan D, Gocmen R, Kılıc SS, Kuskonmaz B, Cetinkaya D, Tezcan I, Cagdas D.
    Eur J Med Genet; 2022 Mar 19; 65(3):104428. PubMed ID: 35063692
    [Abstract] [Full Text] [Related]

  • 20. TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
    Toro A, Grunebaum E.
    J Clin Invest; 2006 Oct 19; 116(10):2717-26. PubMed ID: 16964310
    [Abstract] [Full Text] [Related]

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