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Results: 1 to 20 of 187

1.

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme.

Hirschhorn R, Roegner V, Jenkins T, Seaman C, Piomelli S, Borkowsky W.

J Clin Invest. 1979 Oct;64(4):1130-9.

PMID:
479373
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother.

Schmalstieg FC, Mills GC, Tsuda H, Goldman AS.

Pediatr Res. 1983 Dec;17(12):935-40.

PMID:
6606796
[PubMed - indexed for MEDLINE]
3.

Genetic heterogeneity in partial adenosine deaminase deficiency.

Hirschhorn R, Martiniuk F, Roegner-Maniscalco V, Ellenbogen A, Perignon JL, Jenkins T.

J Clin Invest. 1983 Jun;71(6):1887-92.

PMID:
6863546
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency.

Agarwal RP, Crabtree GW, Parks RE Jr, Nelson JA, Keightley R, Parkman R, Rosen FS, Stern RC, Polmar SH.

J Clin Invest. 1976 Apr;57(4):1025-35.

PMID:
947948
[PubMed - indexed for MEDLINE]
Free PMC Article
5.
6.

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.

Cohen A, Hirschhorn R, Horowitz SD, Rubinstein A, Polmar SH, Hong R, Martin DW Jr.

Proc Natl Acad Sci U S A. 1978 Jan;75(1):472-6.

PMID:
272665
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Enzyme replacement and other biochemical approaches to the therapy of adenosine deaminase deficiency.

Polmar SH.

Ciba Found Symp. 1978;(68):213-30. Review.

PMID:
227649
[PubMed - indexed for MEDLINE]
8.

Rejection of bone marrow transplant and resistance of alloantigen reactive cells to in vivo deoxyadenosine in adenosine deaminase deficiency.

Cowan MJ, Shannon KM, Wara DW, Ammann AJ.

Clin Immunol Immunopathol. 1988 Nov;49(2):242-50.

PMID:
2971490
[PubMed - indexed for MEDLINE]
9.

Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.

Hirschhorn R, Roegner-Maniscalco V, Kuritsky L, Rosen FS.

J Clin Invest. 1981 Dec;68(6):1387-93.

PMID:
7033281
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy.

Hutton JJ, Wiginton DA, Coleman MS, Fuller SA, Limouze S, Lampkin BC.

J Clin Invest. 1981 Aug;68(2):413-21.

PMID:
7263861
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.

Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA.

Clin Exp Immunol. 1987 Dec;70(3):491-9.

PMID:
3436096
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.

Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T.

Hum Genet. 1997 Jul;100(1):22-9.

PMID:
9225964
[PubMed - indexed for MEDLINE]
13.
14.

Family study on the kindred of an adenosine deaminase deficient child with severe combined immunodeficiency.

Lee CH, Ziegler JB, Rozenberg MC.

Aust N Z J Med. 1979 Oct;9(5):530-3.

PMID:
294907
[PubMed - indexed for MEDLINE]
15.

Adenosine deaminase deficiency without immunodeficiency: clinical and metabolic studies.

Borkowsky W, Gershon AA, Shenkman L, Hirschhorn R.

Pediatr Res. 1980 Jul;14(7):885-9.

PMID:
6251420
[PubMed - indexed for MEDLINE]
16.

[Adenosine deaminase activity and immune dysfunction (author's transl)].

Bremer H, Bauer I, Brock J.

Allerg Immunol (Leipz). 1981;27(1):3-13. Review. German.

PMID:
6455054
[PubMed - indexed for MEDLINE]
17.

Purine metabolism in adenosine deaminase deficiency.

Simmonds HA, Sahota A, Potter CF, Perrett D, Hugh-Jones K, Watson JG.

Ciba Found Symp. 1978;(68):255-62.

PMID:
387357
[PubMed - indexed for MEDLINE]
18.

Establishment and characterization of adenosine deaminase-deficient human T cell lines.

Kohn DB, Mitsuya H, Ballow M, Selegue JE, Barankiewicz J, Cohen A, Gelfand E, Anderson WF, Blaese RM.

J Immunol. 1989 Jun 1;142(11):3971-7.

PMID:
2497184
[PubMed - indexed for MEDLINE]
19.

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.

Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA.

J Clin Invest. 1983 Aug;72(2):483-92.

PMID:
6603477
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Adenosine deaminase deficiency.

Hirschhorn R.

Immunodefic Rev. 1990;2(3):175-98. Review.

PMID:
2078332
[PubMed - indexed for MEDLINE]
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