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1

Harkness, R. Angus, Gertrude B. Elion, and Nepomuk Zöllner, eds. Purine and Pyrimidine Metabolism in Man VII. Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-7703-4.

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2

Sahota, Amrik, and Milton W. Taylor, eds. Purine and Pyrimidine Metabolism in Man VIII. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2584-4.

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3

Griesmacher, Andrea, Mathias M. Müller, and Peter Chiba, eds. Purine and Pyrimidine Metabolism in Man IX. Springer US, 1998. http://dx.doi.org/10.1007/978-1-4615-5381-6.

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4

Nyhan, W. L., L. F. Thompson, and R. W. E. Watts, eds. Purine and Pyrimidine Metabolism in Man V. Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-1248-2.

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5

Harkness, R. Angus, Gertrude B. Elion, and Nepomuk Zöllner, eds. Purine and Pyrimidine Metabolism in Man VII. Springer US, 1991. http://dx.doi.org/10.1007/978-1-4899-2638-8.

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6

Mikanagi, Kiyonobu, Kusuki Nishioka, and William N. Kelley, eds. Purine and Pyrimidine Metabolism in Man VI. Springer US, 1989. http://dx.doi.org/10.1007/978-1-4684-5673-8.

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7

Mikanagi, Kiyonobu, Kusuki Nishioka, and William N. Kelley, eds. Purine and Pyrimidine Metabolism in Man VI. Springer US, 1989. http://dx.doi.org/10.1007/978-1-4684-5676-9.

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8

Nyhan, W. L., L. F. Thompson, and R. W. E. Watts, eds. Purine and Pyrimidine Metabolism in Man V. Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-5104-7.

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9

Zoref-Shani, Esther, and Oded Sperling, eds. Purine and Pyrimidine Metabolism in Man X. Springer US, 2002. http://dx.doi.org/10.1007/b113056.

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10

Andrea, Griesmacher, Chiba Peter, Müller Mathias M, European Symposium on Purine and Pyrimidine Metabolism in Man (6th : 1997 : Gmunden, Austria), and International Symposium on Purine and Pyrimidine Metabolism in Man (9th : 1997 : Gmunden, Austria), eds. Purine and pyrimidine metabolism in man IX. Plenum Press, 1998.

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11

International Symposium on Purine and Pyrimidine Metabolism in Man (7th 1991 Bournemouth, England). Purine and pyrimidine metabolism in man VII. Plenum Press, 1991.

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12

International Symposium on Human Purine and Pyrimidine Metabolism (6th 1988 Hakone-machi, Japan). Purine and pyrimidine metabolism in man VI. Plenum Press, 1989.

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13

1926-, Nyhan William L., Thompson L. F. 1947-, Watts R. W. E, and Seegmiller J. E, eds. Purine and pyrimidine metabolism in man V. Plenum Press, 1986.

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14

Amrik, Sahota, Taylor Milton W, and International Symposium on Purine and Pyrimidine Metabolism in Man (8th : 1994 : Bloomington, Ind.), eds. Purine and pyrimidine metabolism in man VIII. Plenum Press, 1995.

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15

Wolfram, Günther, ed. Genetic and Therapeutic Aspects of Lipid and Purine Metabolism. Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-61322-7.

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16

L, Tritsch George, New York Academy of Sciences., and Conference on Adenosine Deaminase in Disorders of Purine Metabolism and in Immune Deficiency (1984 : New York, N.Y.), eds. Adenosine deaminase in disorders of purine metabolism and in immune deficiency. New York Academy of Sciences, 1985.

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17

Mojzita, Dominik. Thiamine-related regulation of metabolism and gene expression in the yeast Saccharomyces cerevisiae. Dept. of Cellular and Molecular Biology, Göteborg University, 2007.

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18

Ursula, Gresser, and Abreu R. A. de, eds. Molecular genetics, biochemistry and clinical aspects of inherited disorders of purine and pyrimidine metabolism. Springer, 1993.

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19

Gresser, Ursula, ed. Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism. Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-84962-6.

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20

Amara, Francis Morigua. The significance of purine salvage pathway enzymes in mutagenesis and nucleotide metabolism in friend erythroleukaemia cells. The Author], 1990.

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21

Carpenter, Kenneth J. Beriberi, white rice, and vitamin B: A disease, a cause, and a cure. University of California Press, 2000.

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22

Carpenter, Kenneth J. Beriberi, white rice, and vitamin B: A disease, a cause, and a cure. University of California Press, 2000.

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23

Sedel, Frédéric, and Carla E. M. Hollak. Disorders of Thiamine Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0028.

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Thiamine is a water-soluble vitamin acting in the mitochondria as a cofactor for energy metabolism and, in the cytoplasm, in the pentose phosphate biosynthetic pathway. Its transport through the plasma membrane requires two transporters with overlapping functions: THTR1 encoded by SLC19A2, and THTR2 encoded by SLC19A3. Thiamine is transformed into its active form, thiamine pyrophosphate (TPP) by a kinase encoded by the TPK1 gene. Then it may enter the mitochondria through a TPP transporter encoded by SLC25A19. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia (TRMA). Mutation
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24

Staff, CIBA Foundation Symposium. Purine and Pyrimidine Metabolism. Wiley & Sons, Limited, John, 2008.

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25

Elliott, Katherine, and David W. FitzSimons. Purine and Pyrimidine Metabolism. Wiley & Sons, Incorporated, John, 2009.

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26

Purine Pyrimidine Metab Man. Plenum Press, 1986.

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27

Ceballos-Picot, Irène, and H. A. Jinnah. Disorders of Purine Metabolism Affecting Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0042.

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Defects in some of the enzymes of purine metabolism are known to be associated with specific clinical disorders that may manifest at any age. Some of these disorders first present in adulthood, while many present earlier but go undiagnosed until adulthood. This chapter describes the disorders for which the metabolic basis is well characterized, in particular Lesch-Nyhan disease caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and characterized by hyperuricemia, and variable motor and cognitive disability. Adenine phosphoribosyltransferase (APRT) deficiency is a n
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28

Harkness, R. Purine and Pyrimidine Metabolism in Man Vii. Springer, 2012.

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29

Sahota, Amrik, and Milton W. Taylor. Purine and Pyrimidine Metabolism in Man VIII. Springer, 2013.

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30

Chiba, Peter, Andrea Griesmacher, and Mathias M. Müller. Purine and Pyrimidine Metabolism in Man IX. Springer My Copy UK, 1998.

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31

Nyhan, W. L. Purine and Pyrimidine Metabolism in Man V. Island Press, 1986.

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32

Mikanagi, Kiyonobu. Purine and Pyrimidine Metabolism in Man VI. Springer, 2012.

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33

Zoref-Shani, Esther, and Oded Sperling. Purine and Pyrimidine Metabolism in Man X. Springer London, Limited, 2006.

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34

Sahota, Amrik, and Milton W. Taylor. Purine and Pyrimidine Metabolism in Man VIII. Springer London, Limited, 2013.

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35

Chiba, Peter, Andrea Griesmacher, and Mathias M. Müller. Purine and Pyrimidine Metabolism in Man IX. Springer, 2012.

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36

Zoref-Shani, Esther, and Oded Sperling. Purine and Pyrimidine Metabolism in Man X. Springer US, 2010.

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37

Chiba, Peter, Andrea Griesmacher, and Mathias M. Müller. Purine and Pyrimidine Metabolism in Man IX. Springer London, Limited, 2012.

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38

Sperling, Oded. Purine Metabolism in Man: Biochemistry and Pharmacology of Uric Acid Metabolism. Springer, 2013.

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39

Sperling, Oded. Purine Metabolism in Man: Biochemistry and Pharmacology of Uric Acid Metabolism. Springer London, Limited, 2013.

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40

Sperling, Oded. Purine Metabolism in Man: Enzymes and Metabolic Pathways. Springer London, Limited, 2012.

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41

Sperling, Oded. Purine Metabolism in Man: Enzymes and Metabolic Pathways. Springer, 2013.

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42

Wolfram, Günther. Genetic and Therapeutic Aspects of Lipid and Purine Metabolism. Springer London, Limited, 2012.

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43

Wolfram, Günther. Genetic and Therapeutic Aspects of Lipid and Purine Metabolism. Springer London, Limited, 2011.

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44

Genetic and therapeutic aspects of lipid and purine metabolism. Springer-Verlag, 1989.

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45

Genetic and Therapeutic Aspects of Lipid and Purine Metabolism. Island Press, 1988.

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46

Genetic and Therapeutic Aspects of Lipid and Purine Metabolism. Springer, 1989.

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47

Rapado, A. Purine Metabolism in Man-III: Clinical and Therapeutic Aspects. Springer, 2013.

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48

Rapado, A. Purine Metabolism in Man-III: Clinical and Therapeutic Aspects. Springer London, Limited, 2012.

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49

Rapado, A. Purine Metabolism in Man-III: Clinical and Therapeutic Aspects. Springer, 2012.

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50

A, Harkness R., Elion Gertrude B, and Zöllner Nepomuk, eds. Purine and pyrimidine metabolism in man VII: Part b: structural biochemistry, pathogenesis, and metabolism. Plenum Press, 1991.

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