-
1
-
-
0015515283
-
Adenosine deaminase deficiency in two patients with severely impaired cellular immunity
-
Giblett E. R., Anderson J. E., Cohen F., Pollara B., Meuwissen H. J. Adenosine deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 2:1972;1067-1069.
-
(1972)
Lancet
, vol.2
, pp. 1067-1069
-
-
Giblett, E.R.1
Anderson, J.E.2
Cohen, F.3
Pollara, B.4
Meuwissen, H.J.5
-
2
-
-
84919573117
-
Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity
-
Giblett E. R., Ammann A. J., Wara D. W., Sandman R., Diamond L. K. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1:1975;1010-1013.
-
(1975)
Lancet
, vol.1
, pp. 1010-1013
-
-
Giblett, E.R.1
Ammann, A.J.2
Wara, D.W.3
Sandman, R.4
Diamond, L.K.5
-
3
-
-
0018418777
-
Thymic morphology in immunodeficiency diseases: Results of thymic biopsies
-
Borzy M., Schulte-Wissermann H., Gilbert E., Horowitz S. D., Pellett J., Hong R. Thymic morphology in immunodeficiency diseases: Results of thymic biopsies. Clin. Immunol. Immunopathol. 12:1979;31-51.
-
(1979)
Clin. Immunol. Immunopathol.
, vol.12
, pp. 31-51
-
-
Borzy, M.1
Schulte-Wissermann, H.2
Gilbert, E.3
Horowitz, S.D.4
Pellett, J.5
Hong, R.6
-
4
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley R. H., Schiff R. I., Schiff S. E., Markert M. L., Williams L. W., Harville T. O., Roberts J. L., Puck J. M. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 130:1997;378-387.
-
(1997)
J. Pediatr.
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
Markert, M.L.4
Williams, L.W.5
Harville, T.O.6
Roberts, J.L.7
Puck, J.M.8
-
5
-
-
0017099776
-
The chondroosseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency
-
Cederbaum S. D., Kaitila I., Rimoin D. L., Stiehm E. R. The chondroosseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J. Pediatr. 89:1976;737-742.
-
(1976)
J. Pediatr.
, vol.89
, pp. 737-742
-
-
Cederbaum, S.D.1
Kaitila, I.2
Rimoin, D.L.3
Stiehm, E.R.4
-
6
-
-
0018909133
-
Amelioration of neurological abnormalities after "enzyme replacement" in adenosine deaminase deficiency
-
Hirschhorn R., Papageorgiou P., Kesarwala H., Taft L. T. Amelioration of neurological abnormalities after "enzyme replacement" in adenosine deaminase deficiency. N. Engl. J. Med. 303:1980;377-380.
-
(1980)
N. Engl. J. Med.
, vol.303
, pp. 377-380
-
-
Hirschhorn, R.1
Papageorgiou, P.2
Kesarwala, H.3
Taft, L.T.4
-
7
-
-
0021888349
-
Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. I. Kidney, adrenal and chondro-osseous tissue alterations
-
Ratech H., Alba-Greco M., Gallo G., Rimoin D. L., Kamino H., Hirschhorn R. Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. I. Kidney, adrenal and chondro-osseous tissue alterations. Am. J. Pathol. 120:1985;157-169.
-
(1985)
Am. J. Pathol.
, vol.120
, pp. 157-169
-
-
Ratech, H.1
Alba-Greco, M.2
Gallo, G.3
Rimoin, D.L.4
Kamino, H.5
Hirschhorn, R.6
-
8
-
-
0002377290
-
Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency
-
C. M. Scriver, A. L. Beaudet, W. Sly, & D. Valle. New York: McGraw-Hill
-
Hershfield M. S., Mitchell B. S. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. Scriver C. M., Beaudet A. L., Sly W., Valle D. Metabolic Basis of Inherited Disease. 1995;1725-1768 McGraw-Hill, New York.
-
(1995)
Metabolic Basis of Inherited Disease
, pp. 1725-1768
-
-
Hershfield, M.S.1
Mitchell, B.S.2
-
9
-
-
0029879147
-
Hepatic dysfunction as a complication of adenosine deaminase deficiency
-
Bollinger M. E., Arrendondo-Vega F. X., Santisteban I., Schwarz K., Hershfield M. S., Lederman H. M. Hepatic dysfunction as a complication of adenosine deaminase deficiency. N. Engl. J. Med. 334:1996;1367-1371.
-
(1996)
N. Engl. J. Med.
, vol.334
, pp. 1367-1371
-
-
Bollinger, M.E.1
Arrendondo-Vega, F.X.2
Santisteban, I.3
Schwarz, K.4
Hershfield, M.S.5
Lederman, H.M.6
-
10
-
-
0023146216
-
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase
-
Hershfield M. S., Buckley R. H., Greenberg M. L., Melton A. L., Schiff R., Hatem C., Kurtzberg J., Markert M. L., Kobayashi R. H., Kobayashi A. L., Abuchowski A. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N. Engl. J. Med. 316:1987;589-596.
-
(1987)
N. Engl. J. Med.
, vol.316
, pp. 589-596
-
-
Hershfield, M.S.1
Buckley, R.H.2
Greenberg, M.L.3
Melton, A.L.4
Schiff, R.5
Hatem, C.6
Kurtzberg, J.7
Markert, M.L.8
Kobayashi, R.H.9
Kobayashi, A.L.10
Abuchowski, A.11
-
11
-
-
0019800071
-
Alteration of the circulating life and antigenic properties of bovine adenosine deaminase in mice by attachment of polyethylene glycol
-
Davis S., Abuchowski A., Park Y. K., Davis F. F. Alteration of the circulating life and antigenic properties of bovine adenosine deaminase in mice by attachment of polyethylene glycol. Clin. Exp. Immunol. 46:1981;649-652.
-
(1981)
Clin. Exp. Immunol.
, vol.46
, pp. 649-652
-
-
Davis, S.1
Abuchowski, A.2
Park, Y.K.3
Davis, F.F.4
-
12
-
-
0027415225
-
Development of gene therapy for immunodeficiency: Adenosine deaminase deficiency
-
Blaese R. M. Development of gene therapy for immunodeficiency: Adenosine deaminase deficiency. Pediatr. Res. 3:1992;49-55.
-
(1992)
Pediatr. Res.
, vol.3
, pp. 49-55
-
-
Blaese, R.M.1
-
13
-
-
0028789792
-
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-deficient patients
-
Bordignon C., Notarangelo L. D., Nobili N., Ferrari G., Casorati G., Panina P., Mazzolari E., Maggioni D., Rossi C., Servida P., Ugazio A. G., Mavilio F. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-deficient patients. Science. 270:1995;470-475.
-
(1995)
Science
, vol.270
, pp. 470-475
-
-
Bordignon, C.1
Notarangelo, L.D.2
Nobili, N.3
Ferrari, G.4
Casorati, G.5
Panina, P.6
Mazzolari, E.7
Maggioni, D.8
Rossi, C.9
Servida, P.10
Ugazio, A.G.11
Mavilio, F.12
-
14
-
-
0031593688
-
T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord CD34+ cells in ADA-deficient SCID neonates
-
Kohn D. B., Hershfield M. S., Carbonaro D., Shigeoka A., Brooks J., Smorgorzewska E. M., Barsky L. W., Chan R., Burotto F., Annett G., Nolta J. A., Crooks G., Kapoor N., Elder M., Wara D., Bowen T., Madsen E., Snyder F. F., Bastian J., Muul L., Blaese R. M., Weinberg K., Parkman R. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord CD34+ cells in ADA-deficient SCID neonates. Nat. Med. 4:1998;775.
-
(1998)
Nat. Med.
, vol.4
, pp. 775
-
-
Kohn, D.B.1
Hershfield, M.S.2
Carbonaro, D.3
Shigeoka, A.4
Brooks, J.5
Smorgorzewska, E.M.6
Barsky, L.W.7
Chan, R.8
Burotto, F.9
Annett, G.10
Nolta, J.A.11
Crooks, G.12
Kapoor, N.13
Elder, M.14
Wara, D.15
Bowen, T.16
Madsen, E.17
Snyder, F.F.18
Bastian, J.19
Muul, L.20
Blaese, R.M.21
Weinberg, K.22
Parkman, R.23
more..
-
15
-
-
0017839332
-
Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency
-
Hirschhorn R., Martiniuk F., Rosen F. S. Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency. Clin. Immunol. Immunopathol. 9:1978;287-292.
-
(1978)
Clin. Immunol. Immunopathol.
, vol.9
, pp. 287-292
-
-
Hirschhorn, R.1
Martiniuk, F.2
Rosen, F.S.3
-
16
-
-
0027413591
-
Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency
-
Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pedriatr. Res. 33:1993;S35-S41.
-
(1993)
Pedriatr. Res.
, vol.33
-
-
Hirschhorn, R.1
-
17
-
-
0028946706
-
Adenosine receptor subtypes: Characterization and therapeutic regulation
-
Olah M. E., Stiles G. L. Adenosine receptor subtypes: Characterization and therapeutic regulation. Annu. Rev. Pharmacol. Toxicol. 35:1995;581-606.
-
(1995)
Annu. Rev. Pharmacol. Toxicol.
, vol.35
, pp. 581-606
-
-
Olah, M.E.1
Stiles, G.L.2
-
18
-
-
0031154752
-
Effects of extracellular ATP and adenosine on different thymocyte subsets: Possible role of ATP-gated channels and G protein-coupled purinergic receptor
-
Apasov S. G., Koshiba M., Chused T. M., Sitkovsky M. V. Effects of extracellular ATP and adenosine on different thymocyte subsets: Possible role of ATP-gated channels and G protein-coupled purinergic receptor. J. Immunol. 158:1997;5095-5105.
-
(1997)
J. Immunol.
, vol.158
, pp. 5095-5105
-
-
Apasov, S.G.1
Koshiba, M.2
Chused, T.M.3
Sitkovsky, M.V.4
-
19
-
-
0025230674
-
Adenosine receptor-mediated accumulation of cyclic AMP-induced T-lymphocyte death through internucleosomal DNA cleavage
-
Kizaki H., Suzuki K., Tadakuma T., Ishimura Y. Adenosine receptor-mediated accumulation of cyclic AMP-induced T-lymphocyte death through internucleosomal DNA cleavage. J. Biol. Chem. 265:1990;5280-5284.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 5280-5284
-
-
Kizaki, H.1
Suzuki, K.2
Tadakuma, T.3
Ishimura, Y.4
-
20
-
-
0025024913
-
Agents that elevate cAMP stimulate DNA fragmentation in thymocytes
-
McConkey D. J., Orrenius S., Jondel M. Agents that elevate cAMP stimulate DNA fragmentation in thymocytes. J. Immunol. 145:1990;1227-1230.
-
(1990)
J. Immunol.
, vol.145
, pp. 1227-1230
-
-
McConkey, D.J.1
Orrenius, S.2
Jondel, M.3
-
21
-
-
0018765904
-
In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2′-deoxyadenosine in adenosine deaminase-deficient patients
-
Hershfield M. S., Kerdich N. M., Ownby D. R., Ownby H., Buckley R. In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2′-deoxyadenosine in adenosine deaminase-deficient patients. J. Clin. Invest. 63:1979;807-811.
-
(1979)
J. Clin. Invest.
, vol.63
, pp. 807-811
-
-
Hershfield, M.S.1
Kerdich, N.M.2
Ownby, D.R.3
Ownby, H.4
Buckley, R.5
-
22
-
-
0030018196
-
-
Ratter F., Germer M., Fischbach T., Schulze-Osthoff K., Peter M. E., Droge W., Krammer P. H., Lehmann V. S. 8:1996;1139-1147.
-
(1996)
S
, vol.8
, pp. 1139-1147
-
-
Ratter, F.1
Germer, M.2
Fischbach, T.3
Schulze-Osthoff, K.4
Peter, M.E.5
Droge, W.6
Krammer, P.H.7
Lehmann, V.8
-
23
-
-
0021367572
-
DNA strand breaks induced in human T-lymphocytes by the combination of deoxyadenosine and deoxycoformycin
-
Brox L., Ng A., Pollock E., Belch A. DNA strand breaks induced in human T-lymphocytes by the combination of deoxyadenosine and deoxycoformycin. Cancer Res. 44:1984;934-937.
-
(1984)
Cancer Res.
, vol.44
, pp. 934-937
-
-
Brox, L.1
Ng, A.2
Pollock, E.3
Belch, A.4
-
24
-
-
0033280669
-
Biochemical pathways of caspase activation during apoptosis
-
Budihardjo I., Oliver H., Lutter M., Luo X., Wang X. Biochemical pathways of caspase activation during apoptosis. Annu. Rev. Cell Dev. Biol. 15:1999;269-290.
-
(1999)
Annu. Rev. Cell Dev. Biol.
, vol.15
, pp. 269-290
-
-
Budihardjo, I.1
Oliver, H.2
Lutter, M.3
Luo, X.4
Wang, X.5
-
25
-
-
0018103017
-
Deoxyadenosine metabolism and cytotoxicity in cultured mouse T lymphoma cells. A model for immunodeficiency disease
-
Ullman B., Gudas L. J., Cohen A., Martin D. W. Jr. Deoxyadenosine metabolism and cytotoxicity in cultured mouse T lymphoma cells. A model for immunodeficiency disease. Cell. 14:1978;365-375.
-
(1978)
Cell
, vol.14
, pp. 365-375
-
-
Ullman, B.1
Gudas, L.J.2
Cohen, A.3
Martin D.W., Jr.4
-
26
-
-
0022003367
-
Mechanism of deoxyadenosine and 2-chlorodeoxyadenosine toxicity to nondividing human lymphocytes
-
Seto S., Carrera C. J., Kubota M., Wasson D. B., Carson D. A. Mechanism of deoxyadenosine and 2-chlorodeoxyadenosine toxicity to nondividing human lymphocytes. J. Clin. Invest. 75:1985;377-385.
-
(1985)
J. Clin. Invest.
, vol.75
, pp. 377-385
-
-
Seto, S.1
Carrera, C.J.2
Kubota, M.3
Wasson, D.B.4
Carson, D.A.5
-
27
-
-
0029005278
-
Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice
-
Wakamiya M., Blackburn M. R., Jurecic R., McArthur M. J., Gieske R. S., Cartwright J., Mitani K., Vaishnav S., Belmont J. J., Kellems R. E., Finegold M. J., Montgomer C. A., Bradley A., Caskey C. T. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc. Natl. Acad. Sci. USA. 92:1995;3673-3677.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 3673-3677
-
-
Wakamiya, M.1
Blackburn, M.R.2
Jurecic, R.3
McArthur, M.J.4
Gieske, R.S.5
Cartwright, J.6
Mitani, K.7
Vaishnav, S.8
Belmont, J.J.9
Kellems, R.E.10
Finegold, M.J.11
Montgomer, C.A.12
Bradley, A.13
Caskey, C.T.14
-
28
-
-
0029039360
-
Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death
-
Migchielson A. A. J., Breuer M. L., van Roon M. A., te Riele H., Surcher C., Ossendorp F., Toutain S., Hershfield M. S., Berns A., Valerio D. Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat. Genet. 10:1995;279-287.
-
(1995)
Nat. Genet.
, vol.10
, pp. 279-287
-
-
Migchielson, A.A.J.1
Breuer, M.L.2
Van Roon, M.A.3
Te Riele, H.4
Surcher, C.5
Ossendorp, F.6
Toutain, S.7
Hershfield, M.S.8
Berns, A.9
Valerio, D.10
-
29
-
-
0026061599
-
Ontogeny of adenosine deaminase in the mouse decidua and placenta: Immunolocalization and embryo transfer studies
-
Knudsen T. B., Blackburn M. R., Chinsky J. M., Airhart M. J., Kellems R. E. Ontogeny of adenosine deaminase in the mouse decidua and placenta: Immunolocalization and embryo transfer studies. Biol. Reprod. 44:1991;171-184.
-
(1991)
Biol. Reprod.
, vol.44
, pp. 171-184
-
-
Knudsen, T.B.1
Blackburn, M.R.2
Chinsky, J.M.3
Airhart, M.J.4
Kellems, R.E.5
-
30
-
-
0032570814
-
Adenosine deaminase-deficient mice generated using a two-step genetic engineering strategy exhibit a combined immunodeficiency
-
Blackburn M. R., Datta S. K., Kellems R. E. Adenosine deaminase-deficient mice generated using a two-step genetic engineering strategy exhibit a combined immunodeficiency. J. Biol. Chem. 273:1998;5093-5100.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 5093-5100
-
-
Blackburn, M.R.1
Datta, S.K.2
Kellems, R.E.3
-
31
-
-
0023607261
-
Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency
-
Morgan G., Levinsky R. J., Hugh-Jones K., Fairbanks L. D., Morris G. S., Simmonds H. A. Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. Clin. Exp. Immunol. 70:1987;491-499.
-
(1987)
Clin. Exp. Immunol.
, vol.70
, pp. 491-499
-
-
Morgan, G.1
Levinsky, R.J.2
Hugh-Jones, K.3
Fairbanks, L.D.4
Morris, G.S.5
Simmonds, H.A.6
-
32
-
-
0017797659
-
Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency
-
Coleman M. S., Donofrio J., Hutton J. J., Hahn L., Daoud A., Lampkin B., Dyminski J. Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency. J. Biol. Chem. 253:1978;1619-1626.
-
(1978)
J. Biol. Chem.
, vol.253
, pp. 1619-1626
-
-
Coleman, M.S.1
Donofrio, J.2
Hutton, J.J.3
Hahn, L.4
Daoud, A.5
Lampkin, B.6
Dyminski, J.7
-
33
-
-
0013503695
-
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency
-
Cohen A., Hirschhorn R., Horowitz S. D., Rubinstein A., Polmar S. H., Hong R., Martin D. W. Jr. Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc. Natl. Acad. Sci. USA. 75:1978;472-476.
-
(1978)
Proc. Natl. Acad. Sci. USA
, vol.75
, pp. 472-476
-
-
Cohen, A.1
Hirschhorn, R.2
Horowitz, S.D.3
Rubinstein, A.4
Polmar, S.H.5
Hong, R.6
Martin D.W., Jr.7
-
34
-
-
0000930996
-
Immunodeficiency disease due to deficiency of adenosine deaminase
-
H. D. Ochs, C. I. E. Smith, & J. M. Puck. New York: Oxford Univ. Press
-
Hirschhorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. Ochs H. D., Smith C. I. E., Puck J. M. Primary Immunodeficiency Diseases. 1999;121-139 Oxford Univ. Press, New York.
-
(1999)
Primary Immunodeficiency Diseases
, pp. 121-139
-
-
Hirschhorn, R.1
|