메뉴 건너뛰기




Volumn 29, Issue 4, 2009, Pages 309-312

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; COMPLEMENTARY DNA; LEUCINE; PROLINE; PURINE NUCLEOSIDE PHOSPHORYLASE;

EID: 70149103871     PISSN: 02564947     EISSN: 13199226     Source Type: Journal    
DOI: 10.4103/0256-4947.55320     Document Type: Article
Times cited : (16)

References (9)
  • 1
    • 0025785602 scopus 로고
    • Purine nucleoside Phosphorylase deficiency
    • Markert ML Purine nucleoside Phosphorylase deficiency. Immunodefic Rev. 1991;3:45-81.
    • (1991) Immunodefic Rev , vol.3 , pp. 45-81
    • Markert, M.L.1
  • 2
    • 0001907091 scopus 로고    scopus 로고
    • Immunodeficiency disease due to deficiency of purine nucleoside Phosphorylase
    • Ochs HD, Smith CIE, Puck JM, eds. New York: Oxford University Press
    • Osborne WR, Ochs HD. Immunodeficiency disease due to deficiency of purine nucleoside Phosphorylase. In: Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency diseases. A molecular and genetic approach. New York: Oxford University Press; 1999. 140-145 p.
    • (1999) Primary Immunodeficiency Diseases. A Molecular and Genetic Approach
    • Osborne, W.R.1    Ochs, H.D.2
  • 3
    • 12344331854 scopus 로고    scopus 로고
    • Combined immunodeficiencies due to purine enzyme defects
    • Stiehm ER, Ochs HD, Winkelstein J, eds. 5th ed. Philadelphia: WB Saunders
    • Hershfield MS. Combined immunodeficiencies due to purine enzyme defects. In: Stiehm ER, Ochs HD, Winkelstein J, eds. Immunologic disorders in infants and children. 5th ed. Philadelphia: WB Saunders; 2003. p480-504.
    • (2003) Immunologic Disorders in Infants and Children , pp. 480-504
    • Hershfield, M.S.1
  • 4
    • 84919573117 scopus 로고
    • Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity
    • Giblett ER, Ammann AJ, Wara DW, Sandman R, Diamond LK. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1975;1:1010-1013.
    • (1975) Lancet , vol.1 , pp. 1010-1013
    • Giblett, E.R.1    Ammann, A.J.2    Wara, D.W.3    Sandman, R.4    Diamond, L.K.5
  • 5
    • 10344250454 scopus 로고    scopus 로고
    • Novel mutations and hot-spots in patients with purine nucleoside Phosphorylase deficiency
    • published erratum appears in Nucleosides Nucleotides Nucleic Acids. 2005;24:303.
    • Grunebaum E, Zhang J, Roifman CM. Novel mutations and hot-spots in patients with purine nucleoside Phosphorylase deficiency [published erratum appears in Nucleosides Nucleotides Nucleic Acids. 2005;24:303]. Nucleosides Nucleotides Nucleic Acids. 2004;23:1411-1415
    • (2004) Nucleosides Nucleotides Nucleic Acids , vol.23 , pp. 1411-1415
    • Grunebaum, E.1    Zhang, J.2    Roifman, C.M.3
  • 7
    • 0036464720 scopus 로고    scopus 로고
    • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: Decline in revertant T lymphocytes during enzyme replacement therapy
    • Feb 1
    • Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, et al. Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood. 2002 Feb 1;99(3):1005-1013
    • (2002) Blood , vol.99 , Issue.3 , pp. 1005-1013
    • Arredondo-Vega, F.X.1    Santisteban, I.2    Richard, E.3    Bali, P.4    Koleilat, M.5    Loubser, M.6
  • 8
    • 0032231355 scopus 로고    scopus 로고
    • Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles
    • DOI 10.1086/302054
    • Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, and Hershfield MS, Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998;63:1049. (Pubitemid 30418574)
    • (1998) American Journal of Human Genetics , vol.63 , Issue.4 , pp. 1049-1059
    • Arredondo-Vega, F.X.1    Santisteban, I.2    Daniels, S.3    Toutain, S.4    Hershfield, M.S.5
  • 9
    • 0029032523 scopus 로고
    • 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. Normal uric acid concentrations in a purine nucleoside Phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay. Adv Exp Med Biol. 1994;370:387-389.
    • (1994) Adv Exp Med Biol , vol.370 , pp. 387-389
    • Hallett, R.J.1    Cronin, S.M.2    Morgan, G.3    Duley, J.A.4    Fairbanks, L.D.5    Simmonds, H.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.