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Items: 18

1.

Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions.

Rich KC, Majias E, Fox IH.

N Engl J Med. 1980 Oct 23;303(17):973-7. No abstract available.

PMID:
6774252
2.

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
3.

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy.

Hirschhorn R.

Birth Defects Orig Artic Ser. 1983;19(3):73-81. Review. No abstract available.

PMID:
6418227
4.

Immunological aberrations in purine nucleoside phosphorylase deficiencies.

Ammann AJ.

Ciba Found Symp. 1978;(68):55-75. Review. No abstract available.

PMID:
159164
5.

ADA and PNP deficiencies: how it all began.

Giblett ER.

Ann N Y Acad Sci. 1985;451:1-8. Review. No abstract available.

PMID:
3935025
6.

Inherited immunodeficiency diseases: relationship to lymphocyte metabolic dysfunction.

Giblett ER, Polmar SH.

Prog Med Genet. 1979;3:177-219. Review. No abstract available.

PMID:
118484
7.

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase and their implications for therapy of leukemias.

Hirschhorn R, Ratech H.

Curr Top Hematol. 1983;4:1-35. Review. No abstract available.

PMID:
6413135
8.

Adenosine deaminase (ADA) and other enzyme abnormalities in immune deficiency states.

Goldblum RM, Schmalstieg FC, Nelson JA, Mills GC.

Birth Defects Orig Artic Ser. 1978;14(6A):73-84. Review. No abstract available.

PMID:
215243
9.

Biochemistry of diseases of immunodevelopment.

Martin DW Jr, Gelfand EW.

Annu Rev Biochem. 1981;50:845-77. Review. No abstract available.

PMID:
6267992
10.

[Primary immunodeficiencies and purine metabolism].

Romo Cortina A, Lorente Toledano F, Salazar Villalobos V.

Rev Clin Esp. 1985 Oct;177(6):247-53. Review. Spanish. No abstract available.

PMID:
3001848
11.

Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean.

Giblett ER.

Ciba Found Symp. 1978;(68):3-18. Review. No abstract available.

PMID:
115664
13.

Immunodeficiency secondary to adenosine deaminase deficiency and purine nucleoside phosphorylation deficiency.

Carson DA, Carrera CJ.

Semin Hematol. 1990 Jul;27(3):260-9. Review. No abstract available.

PMID:
2115692
14.

Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies.

Hirschhorn R.

Clin Immunol Immunopathol. 1986 Jul;40(1):157-65. Review. No abstract available.

PMID:
3087666
15.

[PNP (purine nucleoside phosphorylase) deficiency].

Taniguchi A.

Nihon Rinsho. 2003 Jan;61 Suppl 1:372-6. Review. Japanese. No abstract available.

PMID:
12629750
16.

[Purine nucleoside phosphorylase (PNP) deficiency].

Sakiyama T.

Nihon Rinsho. 1996 Dec;54(12):3328-32. Review. Japanese.

PMID:
8976114
17.

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;370:387-9. Review. No abstract available.

PMID:
7544949
18.

Methylthioadenosine (MeSAdo) phosphorylase deficiency in malignancy.

Carson DA, Nobori T, Kajander EO, Carrera CJ, Kubota M, Yamanaka H.

Adv Exp Med Biol. 1988;250:179-85. Review. No abstract available.

PMID:
3151225

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