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Results: 1 to 20 of 260

1.

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
2.
3.

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
4.

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH.

J Clin Invest. 1989 Feb;83(2):497-501.

PMID:
2783588
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
6.

Partial adenosine deaminase deficiency: another family from southern Africa.

Hart SL, Lane AB, Jenkins T.

Hum Genet. 1986 Nov;74(3):307-12.

PMID:
3781559
[PubMed - indexed for MEDLINE]
7.

Normal and mutant human adenosine deaminase genes.

Akeson AL, Wiginton DA, Hutton JJ.

J Cell Biochem. 1989 Mar;39(3):217-28. Review.

PMID:
2651461
[PubMed - indexed for MEDLINE]
8.

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Arredondo-Vega FX, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey MS, Hershfield MS.

J Clin Invest. 1990 Aug;86(2):444-52.

PMID:
1974554
[PubMed - indexed for MEDLINE]
Free PMC Article
9.
10.

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]
11.

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]
12.

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R.

Hum Mol Genet. 1997 Dec;6(13):2271-8.

PMID:
9361033
[PubMed - indexed for MEDLINE]
Free Article
13.

Hot spot mutations in adenosine deaminase deficiency.

Hirschhorn R, Tzall S, Ellenbogen A.

Proc Natl Acad Sci U S A. 1990 Aug;87(16):6171-5.

PMID:
2166947
[PubMed - indexed for MEDLINE]
Free PMC Article
14.
15.

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

Valerio D, Duyvesteyn MG, van Ormondt H, Meera Khan P, van der Eb AJ.

Nucleic Acids Res. 1984 Jan 25;12(2):1015-24.

PMID:
6198631
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines.

Daddona PE, Davidson BL, Perignon JL, Kelley WN.

J Biol Chem. 1985 Mar 25;260(6):3875-80.

PMID:
3871777
[PubMed - indexed for MEDLINE]
Free Article
17.

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
18.

[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]
19.

Human B lymphocytes and thymocytes but not peripheral blood mononuclear cells accumulate high dATP levels in conditions simulating ADA deficiency.

Goday A, Simmonds HA, Morris GS, Fairbanks LD.

Biochem Pharmacol. 1985 Oct 1;34(19):3561-9.

PMID:
3876835
[PubMed - indexed for MEDLINE]
20.

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y.

J Immunol. 2001 Feb 1;166(3):1698-702.

PMID:
11160213
[PubMed - indexed for MEDLINE]
Free Article

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