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

178 related items for PubMed ID: 15571269

  • 1. Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
    Grunebaum E, Zhang J, Roifman CM.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1411-5. PubMed ID: 15571269
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
    la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C.
    J Allergy Clin Immunol; 2014 Jul; 134(1):155-9. PubMed ID: 24767876
    [Abstract] [Full Text] [Related]

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

  • 5. A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.
    Al-Saud B, Alsmadi O, Al-Muhsen S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield MS, Al-Mousa H.
    Clin Biochem; 2009 Nov; 42(16-17):1725-7. PubMed ID: 19733163
    [Abstract] [Full Text] [Related]

  • 6. 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; 48(4):410-430. PubMed ID: 30885031
    [Abstract] [Full Text] [Related]

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

  • 8. Mutations in purine nucleoside phosphorylase deficiency.
    Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.
    Hum Mutat; 1997 Jan; 9(2):118-21. PubMed ID: 9067751
    [Abstract] [Full Text] [Related]

  • 9. 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; 65(3):104428. PubMed ID: 35063692
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Purine nucleoside phosphorylase deficiency.
    Markert ML.
    Immunodefic Rev; 1991 Jan; 3(1):45-81. PubMed ID: 1931007
    [Abstract] [Full Text] [Related]

  • 12. 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 Jan; 370():387-9. PubMed ID: 7544949
    [No Abstract] [Full Text] [Related]

  • 13. Purine nucleoside phosphorylase deficiency: a mutation update.
    Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A.
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1243-7. PubMed ID: 22132981
    [Abstract] [Full Text] [Related]

  • 14. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.
    Stoop JW, Zegers BJ, Hendrickx GF, van Heukelom LH, Staal GE, de Bree PK, Wadman SK, Ballieux RE.
    N Engl J Med; 1977 Mar 24; 296(12):651-5. PubMed ID: 402573
    [Abstract] [Full Text] [Related]

  • 15. [Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].
    Iwahana H, Itakura M.
    Nihon Rinsho; 1996 Dec 24; 54(12):3303-8. PubMed ID: 8976110
    [Abstract] [Full Text] [Related]

  • 16. Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.
    Ozkinay F, Pehlivan S, Onay H, van den Berg P, Vardar F, Koturoglu G, Aksu G, Unal D, Tekgul H, Can S, Ozkinay C.
    J Child Neurol; 2007 Jun 24; 22(6):741-3. PubMed ID: 17641261
    [Abstract] [Full Text] [Related]

  • 17. 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 Jun 24; 11():1257. PubMed ID: 32695102
    [Abstract] [Full Text] [Related]

  • 18. Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.
    Madkaikar MR, Kulkarni S, Utage P, Fairbanks L, Ghosh K, Marinaki A, Desai M.
    BMJ Case Rep; 2011 Dec 08; 2011():. PubMed ID: 22669887
    [Abstract] [Full Text] [Related]

  • 19. 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 08; 22(5):524-31. PubMed ID: 36100
    [Abstract] [Full Text] [Related]

  • 20. [Purine nucleoside phosphorylase (PNP) deficiency].
    Sumi S, Wada Y.
    Ryoikibetsu Shokogun Shirizu; 1998 May 08; (18 Pt 1):458-9. PubMed ID: 9590100
    [No Abstract] [Full Text] [Related]

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