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1

Kollegger, Harald. Excitatory amino acids and brain damage. Wien: Facultas-Universitätsverlag, 1993.

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2

Pisters, Peter W. T., 1960- and Brennan Murray F, eds. Protein and amino acid metabolism in cancer cachexia. New York: Chapman & Hall, 1996.

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3

1918-, Bickel Horst, and Wachtel U, eds. Inherited diseases of amino acid metabolism: Recent progress in the understanding, recognition, and management : international symposium in Heidelberg 1984. Stuttgart ; New York: Thieme, 1985.

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4

M, Ostrovskiĭ I͡U. Aminokisloty v patogeneze, diagnostike i lechenii alkogolizma. Minsk: Navuka i tėkhnika, 1995.

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5

Jones, Patricia M. Quick guide to organic acid interpretation. Washington D.C: AACC Press, 2011.

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6

Toshihiko, Andō, ed. Aminosan to seikatsu shūkanbyō: Saishin aminoguramu de saguru "inochi" no kagaku = Amino acids. Tōkyō: Joshi Eiyō Daigaku Shuppanbu, 2010.

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7

Parker, James N., and Philip M. Parker. Maple syrup urine disease: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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8

Parker, James N., and Philip M. Parker. Beta-ketothiolase deficiency: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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9

Parker, James N., and Philip M. Parker. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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10

Bender, David A. Amino acid metabolism. 3rd ed. Chichester, West Sussex: John Wiley & Sons, 2012.

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11

Amino acid metabolism. 2nd ed. Chichester: Wiley, 1985.

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12

A, Cynober Luc, ed. Amino acid metabolism and therapy in health and nutritional disease. Boca Raton: CRC Press, 1995.

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13

M, Wallsgrove R., and Rothamsted Experimental Station, eds. Amino acids and their derivatives in higher plants. Cambridge [England]: Cambridge University Press, 1995.

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14

D'Mello, J. P. F., ed. The handbook of microbial metabolism of amino acids. Wallingford: CABI, 2017. http://dx.doi.org/10.1079/9781780647234.0000.

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15

Masella, Roberta. Glutathione and sulfur amino acids in human health and disease. Hoboken: Wiley, 2009.

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16

Workshop on the Biosynthesis of Branched Chain Amino Acids (1988 Beer-sheva, Israel). Biosynthesis of branched chain amino acids. Weinheim: VCH, 1990.

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17

Rhodes, Jeremy David. The metabolism of sucrose and amino acids by aphids. Norwich: University of East Anglia, 1992.

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18

1940-, Barak Z., Chipman D. M, and Schloss J. V, eds. Biosynthesis of branched chain amino acids: Proceedings of the Workshop on the Biosynthesis of Branched Chain Amino Acids, Beer-sheva, Israel, November 1988. [S.l.]: Balaban Publishers, 1990.

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19

Seymour, Kaufman, G.D. Searle & Co., University of California, Los Angeles., and UCLA Symposium "Amino Acids in Health and Disease: New Perspectives" (1986 : Keystone, Colo.), eds. Amino acids in health and disease: New perspectives : proceedings of a Searle-UCLA symposium held at Keystone, Colorado, May 30-June 4, 1986. New York: Liss, 1987.

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20

Purich, Daniel L. Advances in Enzymology and Related Areas of Molecular Biology, 72: Amino Acid Metabolism. 7th ed. Hoboken: John Wiley & Sons, 1998.

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21

Clinical psycho-oncology: An international perspective. Chichester, West Sussex: John Wiley & Sons, 2012.

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22

Prunty, Helen, Jamie L. Fraser, Charles P. Venditti, and Robin H. Lachmann. Branched Chain Amino Acids. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0016.

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This chapter describes the four most common disorders affecting the degradation of branched chain amino acids: maple syrup urine disease, methylmalonic acidemia, propionic acidemia and isovaleric acidemia. These conditions most commonly present with encephalopathy in the newborn period, although cases with later onset have also been described. Although adult patients are less prone to acute metabolic decompensations, they do develop a number of long-term complications, both neurological and visceral. Management shares features with other disorders of protein metabolism and centers on a low-pro
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23

Rovenský, Jozef, Tibor Urbánek, Boldišová Oľga, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2015.

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24

Rovenský, Jozef, Tibor Urbánek, Boldišová Oľga, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2016.

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25

Oľga, Boldisová, Jozef Rovenský, Tibor Urbánek, and James A. Gallagher. Alkaptonuria and Ochronosis. Springer, 2015.

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26

Pisters, Peter W. T., and Murray F. Brennan. Protein and Amino Acid Metabolism in Cancer Cachexia. Springer London, Limited, 2013.

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27

Hartman, Adam L. Amino Acids in the Treatment of Neurological Disorders. Edited by Dominic P. D’Agostino. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0035.

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Studies of metabolism- and diet-based therapies in epilepsy and neuroprotection have focused primarily on the quality and quantity of fat supplementation or carbohydrate restriction. However, protein is another key dietary component that has not been as thoroughly studied. A number of amino acids have been shown to stop, terminate, or prevent seizures. In addition, some have been shown to exert neuroprotective effects in other neurological disorders. Amino acids (and their metabolites) may exert their effects by acting at membrane or cytoplasmic receptors, serving as substrates for membrane tr
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28

Carmel, Ralph, and Donald W. Jacobsen. Homocysteine in Health and Disease. University of Cambridge ESOL Examinations, 2011.

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29

Pearl, Phillip L., and William P. Welch. Pediatric Neurotransmitter Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0059.

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The pediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterized by inherited abnormalities of neurotransmitter synthesis, metabolism, and transport. Disorders involving monoamine synthesis include guanosine triphosphate cyclohydrolase deficiency (Segawa disease or classical Dopa-responsive dystonia as the heterozygous form), aromatic amino acid decarboxylase deficiency, tyrosine hydrolase deficiency, sepiapterin reductase deficiency, and disorders of tetrahydrobiopterin synthesis. These disorders can be classified according to whether they feature
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30

Lachmann, Robin, and Elaine Murphy. Aminoacidopathies, urea cycle disorders, and organic acidurias. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0180.

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Aminoacidopathies are caused by deficiencies in enzymes involved in amino acid metabolism and are often characterized by the accumulation of a toxic amino acid. The two diseases most likely to be encountered in adult medicine are phenylketonuria, which is caused by a deficiency of phenylalanine hydroxylase, and maple syrup urine disease (MSUD), which is due to a branched-chain amino acid decarboxylase deficiency. High levels of phenylalanine progressively damage the developing brain, leading to severe learning difficulties. The high levels of leucine which accumulate in MSUD produce an acute e
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31

Rabier, Daniel. Amino Acids. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0083.

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Amino acids present in the different biological fluids belong to two groups: the protein group, with the 21 classical amino acids constituting the backbone of the protein, and the nonprotein group, appearing in different metabolic pathways as intermediate metabolites. It is important to know and to be able to recognize the latter, as they are the markers of many inherited metabolic diseases. Three kinds of pathways must be considered: the catabolic pathways, the synthesis pathways, and the transport pathways. A disorder on a catabolic pathway induces an increase of all metabolites upstream and
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32

Bender, David A. Amino Acid Metabolism. Wiley & Sons, Incorporated, John, 2012.

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33

Bender, David A. Amino Acid Metabolism. Wiley & Sons, Incorporated, John, 2012.

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34

Bender, David A. Amino Acid Metabolism. Wiley & Sons, Incorporated, John, 2012.

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35

Bender, David A. Amino Acid Metabolism. Wiley & Sons, Limited, John, 2012.

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36

Heales, Simon, Simon Pope, Viruna Neergheen, and Manju Kurian. Abnormalities of CSF Neurotransmitters/Folates. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0082.

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The term Neurotansmitter disorder, in the area of metabolic disease, focuses particularly on inborn errors affecting monoamine (dopamine & serotonin), pyridoxal phosphate (B6) and folate metabolism. Whilst there has been considerable focus on these disorders with regards to the paediatric population, it is clear that an increasing number of adult patients are being identified. Adult neurologists need to be aware of the clinical presentation of such patients and the appropriate tests that need to be requested to ensure a correct diagnosis is achieved. CSF profiling, by a specialist laborato
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37

Ahmed, Ahmed I., Sarah Aldhaheri, and Allison Bannick. Inherited Metabolic Diseases (IMDs) and Pregnancy. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0030.

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Inherited metabolic diseases (IMDs) are rare genetic disorders: clinically heterogeneous, and they can present at any age. With the expanded newborn screening panels, many of the IMDs have been successfully screened. Early diagnosis and treatment of these conditions have led to improved neurological outcomes and overall survival of these individuals, and now many of them are reaching childbearing age. Despite treatment, the potential presence of preexisting organ involvement may not only impact their fertility potentials but also may impose a higher risk of adverse maternal and fetal outcomes.
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38

Amino Acids in Higher Plants. CABI, 2015.

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39

Khillare, Jayant. Amino Acids in Higher Plants. Scitus Academics LLC, 2015.

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40

Grassi, Luigi, and Michelle Riba. Clinical Psycho-Oncology: An International Perspective. Wiley & Sons, Incorporated, John, 2012.

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41

Grassi, Luigi, and Michelle Riba. Clinical Psycho-Oncology: An International Perspective. Wiley & Sons, Incorporated, John, 2012.

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42

Grassi, Luigi, and Michelle Riba. Clinical Psycho-Oncology: An International Perspective. Wiley & Sons, Incorporated, John, 2012.

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43

Nishikawa, Toru, Tohru Yoshimura, and Hiroshi Homma. D-Amino Acids: Physiology, Metabolism, and Application. Springer, 2018.

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44

Handbook of Microbial Metabolism of Amino Acids. CABI, 2017.

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45

Nishikawa, Toru, Tohru Yoshimura, and Hiroshi Homma. D-Amino Acids: Physiology, Metabolism, and Application. Springer London, Limited, 2016.

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46

Nishikawa, Toru, Tohru Yoshimura, and Hiroshi Homma. D-Amino Acids: Physiology, Metabolism, and Application. Springer, 2016.

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47

Metabolism of Aromatic Amino Acids and Amines. Elsevier, 1987. http://dx.doi.org/10.1016/s0076-6879(00)x0055-9.

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48

Kaufman, Seymour, Nathan P. Colowick, and Nathan P. Kaplan. Metabolism of Aromatic Amino Acids and Amines. Elsevier Science & Technology Books, 1987.

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49

Pardee, Joel D., and Suresh Tate. Metabolism of Protein: Fates of Amino Acids. Morgan & Claypool Life Science Publishers, 2011.

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50

Iversen, Leslie L. Amino Acid Neurotransmitters. Springer, 2013.

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