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Items: 1 to 20 of 137

1.

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.

PMID:
402573
2.

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. No abstract available.

PMID:
417142
3.

Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.

Cohen A, Doyle D, Martin DW Jr, Ammann AJ.

N Engl J Med. 1976 Dec 23;295(26):1449-54.

PMID:
825775
4.

Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.

Rich KC, Arnold WJ, Palella T, Fox IH.

Am J Med. 1979 Jul;67(1):172-6.

PMID:
111549
5.

An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity.

van Heukelom LH, Staal GE, Stoop JW, Zegers BJ.

Clin Chim Acta. 1976 Oct 1;72(1):117-24.

PMID:
10103
6.

Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.

Watson AR, Evans DI, Marsden HB, Miller V, Rogers PA.

Arch Dis Child. 1981 Jul;56(7):563-5.

7.
8.

Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.

Osborne WR, Chen SH, Giblett ER, Biggar WD, Ammann AA, Scott CR.

J Clin Invest. 1977 Sep;60(3):741-6.

9.

An approach to the restoration of T cell function in a purine nucleoside phosphorylase deficient patient.

Zegers BJ, Stoop JW, Staal GE, Wadman SK.

Ciba Found Symp. 1978;(68):231-53.

PMID:
115663
10.

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. doi: 10.1016/j.jaci.2014.01.040.

PMID:
24767876
11.

A new form of nucleoside phosphorylase deficiency in two brothers with defective T-cell function.

Biggar WD, Giblett ER, Ozere RL, Grover BD.

J Pediatr. 1978 Mar;92(3):354-7.

PMID:
416186
13.

Cellular immunodeficiency associated with nucleoside phosphorylase deficiency. Immunologic and biochemical studies.

Sandman R, Ammann AJ, Grose C, Wara DW.

Clin Immunol Immunopathol. 1977 Sep;8(2):247-53. No abstract available.

PMID:
198175
14.

Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.

Simmonds HA, Sahota A, Potter CF, Cameron JS.

Clin Sci Mol Med. 1978 May;54(5):579-84. No abstract available.

PMID:
108044
15.

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;22(5):524-31.

PMID:
36100
16.

Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.

Staal GE, Stoop JW, Zegers BJ, Siegenbeek van Heukelom LH, van der Vlist MJ, Wadman SK, Martin DW.

J Clin Invest. 1980 Jan;65(1):103-8.

18.

Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.

Zegers BJ, Stoop JW.

Clin Biochem. 1983 Feb;16(1):43-7. Review.

PMID:
6407780
19.

Metabolic defects and immunodeficiency disorders.

Hirschhorn R.

N Engl J Med. 1983 Mar 24;308(12):714-6. No abstract available.

PMID:
6402701
20.

Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.

Fox IH, Kaminska J, Edwards NL, Gelfand E, Rich KC, Arnold WN.

Biochem Genet. 1980 Apr;18(3-4):221-34.

PMID:
6160848
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