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Results: 13

1.

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.

PMID:
408378
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Immunological aberrations in purine nucleoside phosphorylase deficiencies.

Ammann AJ.

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

PMID:
159164
[PubMed - indexed for MEDLINE]
5.

Purine nucleoside phosphorylase deficiency.

Markert ML.

Immunodefic Rev. 1991;3(1):45-81. Review.

PMID:
1931007
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Structural analyses reveal two distinct families of nucleoside phosphorylases.

Pugmire MJ, Ealick SE.

Biochem J. 2002 Jan 1;361(Pt 1):1-25. Review.

PMID:
11743878
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Purine nucleoside phosphorylase: the normal enzyme and structural alterations in immunodeficiency disease.

Fox IH, Andres CM, Kaminska J, Wortmann RL.

Ciba Found Symp. 1978;(68):193-205. Review. No abstract available.

PMID:
115661
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

[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
[PubMed - indexed for MEDLINE]
13.

Purinogenic immunodeficiency diseases: clinical features and molecular mechanisms.

Mitchell BS, Kelley WN.

Ann Intern Med. 1980 Jun;92(6):826-31. Review.

PMID:
6247948
[PubMed - indexed for MEDLINE]

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