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    Results: 16

    1.

    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. doi: 10.1080/15257770.2011.630852.

    PMID:
    22132981
    [PubMed - indexed for MEDLINE]
    2.

    Primary immunodeficiency diseases associated with neurologic manifestations.

    Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N.

    J Clin Immunol. 2012 Feb;32(1):1-24. doi: 10.1007/s10875-011-9593-8. Epub 2011 Oct 26. Review.

    PMID:
    22038677
    [PubMed - indexed for MEDLINE]
    3.

    Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.

    van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW.

    Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):466-70. doi: 10.1080/15257771003741455.

    PMID:
    20544539
    [PubMed - indexed for MEDLINE]
    4.

    Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

    Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, Ikinciogullari A.

    Eur J Pediatr. 2010 Mar;169(3):311-4. doi: 10.1007/s00431-009-1029-6. Epub 2009 Aug 6.

    PMID:
    19657670
    [PubMed - indexed for MEDLINE]
    5.

    Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

    Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M.

    Ann Saudi Med. 2009 Jul-Aug;29(4):309-12.

    PMID:
    19584574
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.

    Liao P, Toro A, Min W, Lee S, Roifman CM, Grunebaum E.

    J Gene Med. 2008 Dec;10(12):1282-93. doi: 10.1002/jgm.1261.

    PMID:
    18924118
    [PubMed - indexed for MEDLINE]
    7.

    An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.

    Aytekin C, Yuksek M, Dogu F, Yagmurlu A, Yildiran A, Fitoz S, Kologlu M, Babacan E, Hershfield MS, Ikinciogullari A.

    Pediatr Transplant. 2008 Jun;12(4):479-82. doi: 10.1111/j.1399-3046.2007.00890.x. Epub 2008 Jan 14.

    PMID:
    18208442
    [PubMed - indexed for MEDLINE]
    8.

    Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.

    Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V.

    Clin Biochem. 2008 Mar;41(4-5):350-2. Epub 2007 Nov 21. No abstract available.

    PMID:
    18067860
    [PubMed - indexed for MEDLINE]
    9.

    Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.

    Delicou S, Kitra-Roussou V, Peristeri J, Goussetis E, Vessalas G, Rigatou E, Psychou F, Salavoura K, Grafakos S.

    Pediatr Transplant. 2007 Nov;11(7):799-803.

    PMID:
    17910661
    [PubMed - indexed for MEDLINE]
    10.

    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;22(6):741-3.

    PMID:
    17641261
    [PubMed - indexed for MEDLINE]
    11.

    Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.

    Parvaneh N, Ashrafi MR, Yeganeh M, Pouladi N, Sayarifar F, Parvaneh L.

    Brain Dev. 2007 Mar;29(2):124-6. Epub 2006 Sep 1.

    PMID:
    16949240
    [PubMed - indexed for MEDLINE]
    12.

    Disorders of purine and pyrimidine metabolism.

    Nyhan WL.

    Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. Review.

    PMID:
    16176880
    [PubMed - indexed for MEDLINE]
    13.

    Paradoxical CD4+ T-cell decline in HIV-infected patients with complete virus suppression taking tenofovir and didanosine.

    Barrios A, Rendón A, Negredo E, Barreiro P, Garcia-Benayas T, Labarga P, Santos J, Domingo P, Sánchez-Conde M, Maida I, Martín-Carbonero L, Núñez M, Blanco F, Clotet B, Sambeat MA, Gil P, Gonzalez-Lahoz J, Cooper D, Soriano V.

    AIDS. 2005 Mar 24;19(6):569-75.

    PMID:
    15802975
    [PubMed - indexed for MEDLINE]
    14.

    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. Erratum in: Nucleosides Nucleotides Nucleic Acids. 2005;24(4):303.

    PMID:
    15571269
    [PubMed - indexed for MEDLINE]
    15.

    Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.

    Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J.

    J Pediatr. 2004 Nov;145(5):710-2.

    PMID:
    15520787
    [PubMed - indexed for MEDLINE]
    16.

    Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology.

    Dror Y, Grunebaum E, Hitzler J, Narendran A, Ye C, Tellier R, Edwards V, Freedman MH, Roifman CM.

    Pediatr Res. 2004 Mar;55(3):472-7. Epub 2004 Jan 7.

    PMID:
    14711904
    [PubMed - indexed for MEDLINE]

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