Year |
Citation |
Score |
2006 |
Schneider JA, Rosenbloom FM, Bradley KH, Seegmiller JE. Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochemical and Biophysical Research Communications. 29: 527-31. PMID 16496530 DOI: 10.1016/0006-291X(67)90516-5 |
0.335 |
|
1996 |
ENGELMAN K, WATTS RW, KLINENBERG JR, SJOERDSMA A, SEEGMILLER JE. CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA. The American Journal of Medicine. 37: 839-61. PMID 14246087 DOI: 10.1016/0002-9343(64)90128-7 |
0.353 |
|
1991 |
Tarlé SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics. 10: 499-501. PMID 2071157 DOI: 10.1016/0888-7543(91)90341-B |
0.574 |
|
1986 |
Gruber HE, Finley KD, Luchtman LA, Hershberg RM, Katzman SS, Laikind PK, Meyers EN, Seegmiller JE, Friedmann T, Yee JK. Insertion of hypoxanthine phosphoribosyltransferase cDNA into human bone marrow cells by a retrovirus. Advances in Experimental Medicine and Biology. 195: 171-5. PMID 3014831 |
0.395 |
|
1985 |
Gruber HE, Finley KD, Hershberg RM, Katzman SS, Laikind PK, Seegmiller JE, Friedmann T, Yee JK, Jolly DJ. Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells. Science (New York, N.Y.). 230: 1057-61. PMID 3864246 DOI: 10.1126/Science.3864246 |
0.42 |
|
1985 |
Gruber HE, Friedmann T, Finley KD, Katzman S, Laikind PK, Hershberg RM, Luchtman LA, Seegmiller JE, Jolly DJ. INSERTION OF HYPOXAKTHINE PHOSPHORIBOSYLTRANSFERASE (HPRT) cDNA INTO HUMAN BONE MARROW CELLS (BMC) A RETROVIRUS VECTOR: 75 Pediatric Research. 19: 756-756. DOI: 10.1203/00006450-198507000-00095 |
0.394 |
|
1984 |
Willis RC, Jolly DJ, Miller AD, Plent MM, Esty AC, Anderson PJ, Chang HC, Jones OW, Seegmiller JE, Friedmann T. Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. The Journal of Biological Chemistry. 259: 7842-9. PMID 6203897 |
0.449 |
|
1980 |
Howell SB, Chu B, Mendelsohn J, Carson DA, Kung FH, Seegmiller JE. Thymidine as a chemotherapeutic agent: pharmacologic, cytokinetic, and biochemical studies in a patient with T-cell acute lymphocytic leukemia. Journal of the National Cancer Institute. 65: 277-84. PMID 6967527 DOI: 10.1093/Jnci/65.2.277 |
0.413 |
|
1979 |
Carson DA, Kaye J, Matsumoto S, Seegmiller JE, Thompson L. Uniqueness of deoxyribonucleotide metabolism in human malignant T cell lines. Advances in Experimental Medicine and Biology. 122: 381-8. PMID 317570 |
0.412 |
|
1979 |
Carson DA, Kaye J, Seegmiller JE. Metabolism and toxicity of 9-beta-D-arabinofuranosyladenine in human malignant T cells and B cells in tissue culture. Advances in Experimental Medicine and Biology. 122: 299-307. PMID 317567 |
0.4 |
|
1979 |
Carson DA, Kaye J, Matsumoto S, Seegmiller JE, Thompson L. Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines. Proceedings of the National Academy of Sciences of the United States of America. 76: 2430-3. PMID 313056 DOI: 10.1073/pnas.76.5.2430 |
0.411 |
|
1978 |
Carson DA, Kaye J, Seegmiller JE. Differential sensitivity of human leukemic T cell lines and B cell lines to growth inhibition by deoxyadenosine. Journal of Immunology (Baltimore, Md. : 1950). 121: 1726-31. PMID 309480 |
0.386 |
|
1978 |
Willis RC, Carson DA, Seegmiller JE. Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line. Proceedings of the National Academy of Sciences of the United States of America. 75: 3042-4. PMID 210448 |
0.41 |
|
1977 |
Watts RW, Kelley WN, Rapado A, Scott JT, Seegmiller JE, de Vries A, Wyngaarden JB, Zöllner N. Panel discussion: hyperuricemia as a risk factor. Advances in Experimental Medicine and Biology. 76: 342-64. PMID 855760 DOI: 10.1007/978-1-4684-3285-5_51 |
0.418 |
|
1977 |
Carson DA, Goldblum R, Keightley R, Seegmiller JE. Immunoreactive adenosine deaminase (ADA) in cultured fibroblasts from patients with combined immunodeficiency disease. Advances in Experimental Medicine and Biology. 76: 463-70. PMID 855722 DOI: 10.1007/978-1-4613-4223-6_58 |
0.444 |
|
1977 |
Carson DA, Goldblum R, Seegmiller JE. Quantitative immunoassay of adenosine deaminase in combined immunodeficiency disease. Journal of Immunology (Baltimore, Md. : 1950). 118: 270-3. PMID 830750 |
0.443 |
|
1977 |
Carson DA, Kaye J, Seegmiller JE. Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). Proceedings of the National Academy of Sciences of the United States of America. 74: 5677-81. PMID 202960 DOI: 10.1073/Pnas.74.12.5677 |
0.428 |
|
1976 |
Carson DA, Seegmiller JE. Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. The Journal of Clinical Investigation. 57: 274-82. PMID 176177 DOI: 10.1172/JCI108278 |
0.42 |
|
1972 |
Schulman JD, Schneider JA, Bradley KH, Seegmiller JE. Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells. Clinica Chimica Acta; International Journal of Clinical Chemistry. 35: 383-8. PMID 5166451 DOI: 10.1016/0009-8981(71)90210-5 |
0.332 |
|
1972 |
Seegmiller JE. New Prospects for Understanding and Control of Genetic Diseases Archives of Internal Medicine. 130: 181. DOI: 10.1001/Archinte.1972.03650020011003 |
0.32 |
|
1971 |
Schulman JD, Schneider JA, Bradley KH, Seegmiller JE. Heterozygote studies in cystinosis. Clinica Chimica Acta; International Journal of Clinical Chemistry. 29: 73-6. PMID 5500695 DOI: 10.1016/0009-8981(70)90223-8 |
0.329 |
|
1971 |
Seegmiller JE. Diseases of Uric Acid Metabolism. Annals of Internal Medicine. 74: 844. DOI: 10.7326/0003-4819-74-5-844_3 |
0.305 |
|
1970 |
Brubaker RF, Wong VG, Schulman JD, Seegmiller JE, Kuwabara T. Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings. The American Journal of Medicine. 49: 546-50. PMID 5477639 DOI: 10.1016/S0002-9343(70)80049-3 |
0.307 |
|
1970 |
Schulman JD, Lustberg TJ, Kennedy JL, Museles M, Seegmiller JE. A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation. The American Journal of Medicine. 49: 118-24. PMID 5431474 DOI: 10.1016/S0002-9343(70)80121-8 |
0.352 |
|
1970 |
Greene ML, Boyle JA, Seegmiller JE. Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes. Science (New York, N.Y.). 167: 887-9. PMID 5410854 DOI: 10.1126/Science.167.3919.887 |
0.308 |
|
1970 |
Kelley WN, Greene ML, Fox IH, Rosenbloom FM, Levy RI, Seegmiller JE. Effects of orotic acid on purine and lipoprotein metabolism in man. Metabolism: Clinical and Experimental. 19: 1025-35. PMID 4321643 DOI: 10.1016/0026-0495(70)90026-0 |
0.539 |
|
1969 |
Friedmann T, Seegmiller JE, Subak-Sharpe JH. Evidence against the existence of guanosine and inosine kinases in human fibroblasts in tissue culture. Experimental Cell Research. 56: 425-9. PMID 5824460 DOI: 10.1016/0014-4827(69)90034-2 |
0.416 |
|
1969 |
Henderson JF, Kelley WN, Rosenbloom FM, Seegmiller JE. Inheritance of purine phosphoribosyltransferases in man. American Journal of Human Genetics. 21: 61-70. PMID 5763607 |
0.462 |
|
1969 |
Kelley WN, Greene ML, Rosenbloom FM, Henderson JF, Seegmiller JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Annals of Internal Medicine. 70: 155-206. PMID 4884382 DOI: 10.7326/0003-4819-70-1-155 |
0.487 |
|
1968 |
Kaufman JM, Greene ML, Seegmiller JE. Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. The Journal of Pediatrics. 73: 583-92. PMID 5678000 DOI: 10.1016/S0022-3476(68)80274-4 |
0.323 |
|
1968 |
Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. The Journal of Clinical Investigation. 47: 2281-9. PMID 5676523 DOI: 10.1172/Jci105913 |
0.532 |
|
1968 |
Henderson JF, Miller HR, Kelley WN, Rosenbloom FM, Seegmiller JE. Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases. Canadian Journal of Biochemistry. 46: 703-6. PMID 5665447 DOI: 10.1139/O68-108 |
0.543 |
|
1968 |
Henderson JF, Rosenbloom FM, Kelley WN, Seegmiller JE. Variations in purine metabolism of cultured skin fibroblasts from patients with gout. The Journal of Clinical Investigation. 47: 1511-6. PMID 5658584 DOI: 10.1172/Jci105844 |
0.56 |
|
1968 |
Henderson JF, Brox LW, Kelley WN, Rosenbloom FM, Seegmiller JE. Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. The Journal of Biological Chemistry. 243: 2514-22. PMID 5651638 |
0.426 |
|
1968 |
Rosenbloom FM, Henderson JF, Caldwell IC, Kelley WN, Seegmiller JE. Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. The Journal of Biological Chemistry. 243: 1166-73. PMID 5650894 |
0.474 |
|
1968 |
Seegmiller JE, Friedmann T, Harrison HE, Wong V, Schneider JA. Cystinosis. Combined clinical staff conference at the National Institutes of Health. Annals of Internal Medicine. 68: 883-905. PMID 5642970 |
0.345 |
|
1968 |
Kelley WN, Rosenbloom FM, Miller J, Seegmiller JE. An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency. The New England Journal of Medicine. 278: 287-93. PMID 5638346 DOI: 10.1056/NEJM196802082780601 |
0.437 |
|
1968 |
Kelley WN, Rosenbloom FM, Seegmiller JE, Howell RR. Excessive production of uric acid in type I glycogen storage disease. The Journal of Pediatrics. 72: 488-96. PMID 5239290 DOI: 10.1016/S0022-3476(68)80339-7 |
0.488 |
|
1968 |
Seegmiller JE. Detection of Human Inborn Errors of Metabolism by Examination of Urinary Metabolites Clinical Chemistry. 14: 412-417. DOI: 10.1093/Clinchem/14.5.412 |
0.362 |
|
1968 |
FRIEDMANN T, SEEGMILLER JE, SUBAK-SHARPE JH. Metabolic Cooperation between Genetically Marked Human Fibroblasts in Tissue Culture Nature. 220: 272-274. DOI: 10.1038/220272A0 |
0.566 |
|
1967 |
Kelley WN, Rosenbloom FM, Seegmiller JE. The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism. The Journal of Clinical Investigation. 46: 1518-29. PMID 16695929 DOI: 10.1172/Jci105643 |
0.556 |
|
1967 |
Rosenbloom FM, Kelley WN, Miller J, Henderson JF, Seegmiller JE. Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects. Jama. 202: 175-7. PMID 6072350 DOI: 10.1001/Jama.1967.03130160049007 |
0.559 |
|
1967 |
Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE. Xanthine phosphoribosyltransferase in man: relationship to hypoxanthine-guanine phosphoribosyltransferase. Biochemical and Biophysical Research Communications. 28: 340-5. PMID 6055161 DOI: 10.1016/0006-291X(67)90315-4 |
0.473 |
|
1967 |
Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (New York, N.Y.). 155: 1682-4. PMID 6020292 DOI: 10.1126/Science.155.3770.1682 |
0.567 |
|
1967 |
Alepa FP, Howell RR, Klinenberg JR, Seegmiller JE. Relationships between glycogen storage disease and tophaceous gout. The American Journal of Medicine. 42: 58-66. PMID 5225563 DOI: 10.1016/0002-9343(67)90006-X |
0.336 |
|
1967 |
Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE. A specific enzyme defect in gout associated with overproduction of uric acid. Proceedings of the National Academy of Sciences of the United States of America. 57: 1735-9. PMID 4291947 DOI: 10.1073/Pnas.57.6.1735 |
0.496 |
|
1967 |
Rosenbloom F, Kelley W, Henderson J, Seegmiller J. LYON HYPOTHESIS AND X-LINKED DISEASE The Lancet. 290: 305-306. DOI: 10.1016/S0140-6736(67)90137-7 |
0.482 |
|
1964 |
Watts RWE, Engelman K, Klinenberg JR, Seegmiller JE, Sjoerdsma A. Enzyme Defect in a Case of Xanthinuria Nature. 201: 395-396. PMID 14110004 DOI: 10.1038/201395A0 |
0.349 |
|
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