Clinical and biochemical aspects of primary and secondary hyperammonemic disorders

Archives of Biochemistry and Biophysics

Volumn 536, Issue 2, 2013, Pages 101-108

  Häberle, Johannes ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Glutamine synthetase; Hyperammonemia; Hyperammonemic coma; N acetylglutamate synthase; Organic acidemias; Urea cycle disorders

Indexed keywords

ACYLCARNITINE CARNITINE TRANSLOCASE; AMMONIA; ANTIINFECTIVE AGENT; ASPARAGINASE; CARBAMOYL PHOSPHATE SYNTHASE; CARNITINE; GLUTAMATE ACETYLTRANSFERASE; GLUTAMATE AMMONIA LIGASE; ORNITHINE OXOACID AMINOTRANSFERASE; PYRROLINE 5 CARBOXYLATE SYNTHETASE DEFICIENCY; UNCLASSIFIED DRUG; VALPROIC ACID; AMINO ACID ACETYLTRANSFERASE; UREA;

ACIDEMIA; AMMONIA BLOOD LEVEL; ARTICLE; BRAIN DAMAGE; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CONGENITAL BLOOD VESSEL MALFORMATION; DETOXIFICATION; ENZYME DEFECT; HUMAN; HYPERAMMONEMIA; LYSINURIC PROTEIN INTOLERANCE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NONHUMAN; ORNITHINE AMINOTRANSFERASE DEFICIENCY; PATHOPHYSIOLOGY; PORTOSYSTEMIC ANASTOMOSIS; PRIMARY HYPERAMMONEMIA; PRIORITY JOURNAL; SECONDARY HYPERAMMONEMIA; TOTAL PARENTERAL NUTRITION; UREA CYCLE; UREA CYCLE DISORDER; URINARY TRACT INFECTION; ANIMAL; ENZYMOLOGY; HYPERAMMONEMIC COMA; METABOLISM; N-ACETYLGLUTAMATE SYNTHASE; ORGANIC ACIDEMIAS; REVIEW;

MAMMALIA;

GLUTAMINE SYNTHETASE; HYPERAMMONEMIA; HYPERAMMONEMIC COMA; N-ACETYLGLUTAMATE SYNTHASE; ORGANIC ACIDEMIAS; UREA CYCLE DISORDERS;

AMINO-ACID N-ACETYLTRANSFERASE; AMMONIA; ANIMALS; GLUTAMATE-AMMONIA LIGASE; HUMANS; HYPERAMMONEMIA; UREA;

EID: 84884796810     PISSN: 00039861     EISSN: 10960384     Source Type: Journal    
DOI: 10.1016/j.abb.2013.04.009     Document Type: Article

References (140)

1. C. Bachmann, Eur. J. Pediatr. 162 (2003) 410-416.
2. J. Häberle, Eur. J. Pediatr. 170 (2011) 21-34.
3. M.C. Nassogne, B. Heron, G. Touati, D. Rabier, J.M. Saudubray, J. Inherit. Metab. Dis. 28 (2005) 407-414.
4. B. Wilcken, Mol. Genet. Metab. 81 (Suppl. 1) (2004) S86-S91.
5. J. Häberle, N. Boddaert, A. Burlina, A. Chakrapani, M. Dixon, M. Huemer, D. Karall, D. Martinelli, P. Sanjurjo Crespo, R. Santer, A. Servais, V. Valayannopoulos, M. Lindner, V. Rubio, C. Dionisi-Vici, Orphanet J. Rare Dis. 7 (2012) 32.
6. J.P. Colombo, E. Peheim, R. Kretschmer, H. Dauwalder, D. Sidiropoulos, Clinica Chimica Acta; International J. Clin. Chem. 138 (1984) 283-291.
7. C. Bachmann, Clin. Chem. Lab. Med. 40 (2002) 653-662.
8. C. Bachmann, in: C. Bachmann, J. Häberle, J.V. Leonard (Eds.), Pathophysiol. and Management of Hyperammonemia, SPS Publications, Heilbronn, 2006, pp. 157-173.
9. D. Häussinger, Biochem. J. 267 (1990) 281-290.
10. D. Häussinger, J. Parenter. Enteral Nutr. 14 (1990) 56S-62S.
11. D. Häussinger, H. Sies, W. Gerok, J. Hepatol. 1 (1985) 3-14.
12. R. Gebhardt, J. Reichen, Hepatology 20 (1994) 684-691 (Baltimore, MD).
13. J. Häberle, N. Shahbeck, K. Ibrahim, G.F. Hoffmann, T. Ben-Omran, Mol. Genet. Metab. (2011) 7-48.
14. J. Häberle, B. Görg, F. Rutsch, E. Schmidt, A. Toutain, J.F. Benoist, A. Gelot, A.L. Suc, W. Höhne, F. Schliess, D. Häussinger, H.G. Koch, New Engl. J. Med. 353 (2005) 1926-1933.
15. J.V. Leonard, A.A. Morris, Semin. Neonatol. 7 (2002) 27-35.
16. M. Msall, M.L. Batshaw, R. Suss, S.W. Brusilow, E.D. Mellits, New Engl. J. Med. 310 (1984) 1500-1505.
17. S. Picca, C. Dionisi-Vici, D. Abeni, A. Pastore, C. Rizzo, M. Orzalesi, G. Sabetta, G. Rizzoni, A. Bartuli, Pediatr. Nephrol. 6 (2001) 862-867 (Berlin, Germany).
18. T. Uchino, F. Endo, I. Matsuda, J. Inherit. Metab. Dis. 21 (Suppl. 1) (1998) 151-159.
19. S. Brusilow, A. Horwich, in: C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 1909-1963.
20. J.V. Leonard, J. Inherit. Metab. Dis. 18 (1995) 430-434.
21. J.V. Leonard, P. Daish, E.R. Naughten, K. Bartlett, J. Inherit. Metab. Dis. 7 (Suppl. 1) (1984) 13-17.
22. H.R. Filipowicz, S.L. Ernst, C.L. Ashurst, M. Pasquali, N. Longo, Mol. Genet. Metab. 88 (2006) 123-130.
23. P.M. Stewart, M. Walser, J. Clin. Invest. 66 (1980) 484-492.
24. F.X. Coude, L. Sweetman, W.L. Nyhan, J. Clin. Invest. 64 (1979) 1544-1551.
25. F.X. Coude, G. Grimber, P. Parvy, D. Rabier, Biochim. Biophys. Acta 761 (1983) 13-16.
26. J. Häberle, Ther. Clin. Risk Manag. 7 (2011) 327-332.
27. J. Häberle, Expert Rev. Endocrinol. Metab. 7 (2012) 263-271.
28. C.C. Aires, A. van Cruchten, L. Ijlst, I.T. de Almeida, M. Duran, R.J. Wanders, M.F. Silva, J. Hepatol. 55 (2010) 426-434.
29. G.A. Mitchell, N. Gauthier, A. Lesimple, S.P. Wang, O. Mamer, I. Qureshi, Mol. Genet. Metab. 94 (2008) 4-15.
30. G.F. Laube, A. Superti-Furga, M. Losa, V. Buttiker, C. Berger, T.J. Neuhaus, Eur. J. Pediatr. 161 (2002) 163-164.
31. B. Samtoy, M.M. DeBeukelaer, Pediatrics 65 (1980) 294-297.
32. M.A. Ullman, T.A. Haecker, C.R. Medani, New Engl. J. Med. 304 (1981) 1546.
33. D.A. Diamond, A. Blight, P.G. Ransley, J. Urol. 142 (1989) 361-362.
34. H.K. Cheang, L. Rangecroft, N.D. Plant, A.A. Morris, Pediatr. Nephrol. 12 (1998) 658-659.
35. T. Murray, L.L. Comeau, Pediatr. Crit. Care Med. 2 (2001) 178-180.
36. J.V. Leonard, J.D. Kay, Lancet 1 (1986) 162-163.
37. A.J. Watson, T. Chambers, J.E. Karp, V.R. Risch, W.G. Walker, S.W. Brusilow, Lancet 2 (1985) 1271-1274.
38. J.C. Lee, H.S. Lai, S.M. Huang, C.J. Chang, S.T. Wang, W.J. Chen, J. Formos. Med. Assoc. 93 (1994) 486-491.
39. W. Hoover, V. Ackerman, M. Schamberger, M. Kumar, F. Marshalleck, M. Hoyer, Pediatr. Pulmonol. 43 (2008) 196-199.
40. H. Ogul, U. Bayraktutan, A. Yalcin, M.I. Turan, M. Ozgokce, S. Eren, M. Kantarci, Surg. Radiol. Anat. (2012). in press.
41. T. Taguchi, S. Iwamura, M. Mizobuchi, Y. Terada, J. Gastrointest. Liver Dis. 20 (2011) 330-331.
42. S.W. Brusilow, N.E. Maestri, Adv. Pediatr. 43 (1996) 127-170.
43. M. Tuchman, H. Morizono, B.S. Rajagopal, R.J. Plante, N.M. Allewell, J. Inherit. Metab. Dis. 21 (Suppl 1) (1998) 40-58.
44. G.M. Enns, Semin. Pediatr. Neurol. 15 (2008) 132-139.
45. J. Kido, K. Nakamura, H. Mitsubuchi, T. Ohura, M. Takayanagi, M. Matsuo, M. Yoshino, Y. Shigematsu, T. Yorifuji, M. Kasahara, R. Horikawa, F. Endo, J. Inherit. Metab. Dis. 35 (2012) 777-785.
46. M.L. Summar, D. Dobbelaere, S. Brusilow, B. Lee, Acta Paediatr. 97 (2008) 1420-1425.
47. C. Bachmann, Eur. J. Pediatr. 162 (Suppl 1) (2003) S29-S33.
48. S. Picca, A. Bartuli, C. Dionisi-Vici, Semin. Nephrol. 28 (2008) 477-480.
49. A.T. Blei, S. Olafsson, G. Therrien, R.F. Butterworth, Hepatology 19 (1994) 1437-1444. Baltimore, Md.
50. O. Braissant, Mol. Genet. Metab. 100 (Suppl 1) (2010) S3-S12.
51. O. Braissant, Mol. Genet. Metab. 100 (Suppl 1) (2010) S53-58.
52. O. Braissant, V.A. McLin, C. Cudalbu, J. Inheri. Metab. Dis. (2012). in press.
53. R.F. Butterworth, Ment. Retard. Dev. Disabil. Res. Rev. 7 (2001) 276-279.
54. V. Felipo, R.F. Butterworth, Prog. Neurobiol. 67 (2002) 259-279.
55. V. Felipo, C. Hermenegildo, C. Montoliu, M. Llansola, M.D. Minana, Neurotoxicology 19 (1998) 675-681.
56. S. Boenzi, A. Pastore, D. Martinelli, B.M. Goffredo, A. Boiani, C. Rizzo, C. Dionisi-Vici, J. Inherit. Metab. Dis. 35 (2012) 647-653.
57. O. Braissant, H. Henry, E. Beard, J. Uldry, Amino Acids 40 (2011) 1315-1324.
58. E. Roze, C. Azuar, C. Menuel, J. Häberle, R. Guillevin, Pediatr. Neurol. 37 (2007) 222-225.
59. A. Erez, S.C. Nagamani, B. Lee, Am. J. Med. Genet. C Semin. Med. Genet. 157 (2011) 45-53.
60. A. Erez, S.C. Nagamani, O.A. Shchelochkov, M.H. Premkumar, P.M. Campeau, Y. Chen, H.K. Garg, L. Li, A. Mian, T.K. Bertin, J.O. Black, H. Zeng, Y. Tang, A.K. Reddy, M. Summar, W.E. O'Brien, D.G. Harrison, W.E. Mitch, J.C. Marini, J.L. Aschner, N.S. Bryan, B. Lee, Nat. Med. 17 (2011) 1619-1626.
61. L. Krivitzky, T. Babikian, H.S. Lee, N.H. Thomas, K.L. Burk-Paull, M.L. Batshaw, Pediatr. Res. 66 (2009) 96-101.
62. A.L. Gropman, M.L. Batshaw, Mol. Genet. Metab. 81 (Suppl 1) (2004) S58-S62.
63. A.L. Gropman, M. Summar, J.V. Leonard, J. Inherit. Metab. Dis. 30 (2007) 865-879.
64. A. Tessa, G. Fiermonte, C. Dionisi-Vici, E. Paradies, M.R. Baumgartner, Y.H. Chien, C. Loguercio, H.O. de Baulny, M.C. Nassogne, M. Schiff, F. Deodato, G. Parenti, S.L. Rutledge, M.A. Vilaseca, M.A. Melone, G. Scarano, L. Aldamiz-Echevarria, G. Besley, J. Walter, E. Martinez-Hernandez, J.M. Hernandez, C.L. Pierri, F. Palmieri, F.M. Santorelli, Hum. Mutat. 30 (2009) 741-748.
65. A.A. Mhanni, A. Chan, M. Collison, B. Seifert, D.C. Lehotay, A. Sokoro, H.Q. Huynh, C.R. Greenberg, J. Pediatr. Gastroenterol. Nutr. 46 (2008) 312-315.
66. S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Della Casa, M.T. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F.M. Santorelli, G. Andria, J. Inherit. Metab. Dis. 29 (2006) 186-189.
67. T. Ohura, K. Kobayashi, Y. Tazawa, D. Abukawa, O. Sakamoto, S. Tsuchiya, T. Saheki, J. Inherit. Metab. Dis. 30 (2007) 139-144.
68. T. Ohura, K. Kobayashi, Y. Tazawa, I. Nishi, D. Abukawa, O. Sakamoto, K. Iinuma, T. Saheki, Hum. Genet. 108 (2001) 87-90.
69. Y. Tazawa, K. Kobayashi, D. Abukawa, I. Nagata, S. Maisawa, R. Sumazaki, T. Iizuka, Y. Hosoda, M. Okamoto, J. Murakami, S. Kaji, A. Tabata, Y.B. Lu, O. Sakamoto, A. Matsui, S. Kanzaki, G. Takada, T. Saheki, K. Iinuma, T. Ohura, Mol. Genet. Metab. 83 (2004) 213-219.
70. T. Saheki, K. Kobayashi, M. Iijima, M. Moriyama, M. Yazaki, Y. Takei, S. Ikeda, Hepatol. Res. 33 (2005) 181-184.
71. S. Ikeda, M. Yazaki, Y. Takei, T. Ikegami, Y. Hashikura, S. Kawasaki, M. Iwai, K. Kobayashi, T. Saheki, J. Neurol. Neurosurg. Psychiatry 71 (2001) 663-670.
72. D. Dimmock, B. Maranda, C. Dionisi-Vici, J. Wang, S. Kleppe, G. Fiermonte, R. Bai, B. Hainline, A. Hamosh, W.E. O'Brien, F. Scaglia, L.J. Wong, Mol. Genet. Metab. 96 (2009) 44-49.
73. F. Deodato, S. Boenzi, F.M. Santorelli, C. Dionisi-Vici, Am. J. Med. Genet. C: Semin. Med. Genet. 142C (2006) 104-112.
74. J. Vockley, R. Ensenauer, Am. J. Med. Genet. C Semin. Med. Genet. 142C (2006) 95-103.
75. H. Ogier de Baulny, J.M. Saudubray, Semin. Neonatol. 7 (2002) 65-74.
76. B.E. Corkey, A. Martin-Requero, E. Walajtys-Rode, R.J. Williams, J.R. Williamson, J. Biol. Chem. 257 (1982) 9668-9676.
77. A. Martin-Requero, B.E. Corkey, S. Cerdan, E. Walajtys-Rode, R.L. Parrilla, J.R. Williamson, J. Biol. Chem. 258 (1983) 3673-3681.
78. P. Jafari, O. Braissant, P. Zavadakova, H. Henry, L. Bonafe, D. Ballhausen, Orphanet J. Rare Dis. 8 (2013) 4.
79. V. Rubio, S. Grisolia, Enzyme 26 (1981) 233-239.
80. M. Daniotti, G. la Marca, P. Fiorini, L. Filippi, Int. J. Gen. Med. 4 (2011) 21-28.
81. A.E. Bryant 3rd, F.E. Dreifuss, Neurology 46 (1996) 465-469.
82. F.E. Dreifuss, N. Santilli, D.H. Langer, K.P. Sweeney, K.A. Moline, K.B. Menander, Neurology 37 (1987) 379-385.
83. S.A. Konig, H. Siemes, F. Blaker, E. Boenigk, G. Gross-Selbeck, F. Hanefeld, N. Haas, B. Kohler, W. Koelfen, R. Korinthenberg, et al., Epilepsia 35 (1994) 1005-1015.
84. S. Krahenbuhl, S. Brandner, S. Kleinle, S. Liechti, D. Straumann, Liver 20 (2000) 346-348.
85. M.F. Silva, C.C. Aires, P.B. Luis, J.P. Ruiter, J. Inherit. Metab. Dis. 31 (2008) 205-216.
86. C. Lewis, A. Deshpande, G.E. Tesar, R. Dale, Curr. Med. Res. Opin. 28 (2012) 1039-1042.
87. P.E. Lheureux, P. Hantson, Clin. Toxicol. (Phila) 47 (2009) 101-111.
88. J.M. Saudubray, D. Martin, P. de Lonlay, G. Touati, F. Poggi-Travert, D. Bonnet, P. Jouvet, M. Boutron, A. Slama, C. Vianey-Saban, J.P. Bonnefont, D. Rabier, P. Kamoun, M. Brivet, J. Inherit. Metab. Dis. 22 (1999) 488-502.
89. R.J. Pollitt, J. Inherit. Metab. Dis. 18 (1995) 473-490.
90. C.J. Wilson, M.P. Champion, J.E. Collins, P.T. Clayton, J.V. Leonard, Arch. Dis. Child. 80 (1999) 459-462.
91. W.J. Rhead, J. Inherit. Metab. Dis. 29 (2006) 370-377.
92. B.E. Corkey, D.E. Hale, M.C. Glennon, R.I. Kelley, P.M. Coates, L. Kilpatrick, C.A. Stanley, J. Clin. Invest. 82 (1988) 782-788.
93. M.M. Corvi, C.L. Soltys, L.G. Berthiaume, J. Biol. Chem. 276 (2001) 45704-45712.
94. N. Longo, C. Amat di San Filippo, M. Pasquali, Am. J. Med. Genet. C: Semin. Med. Genet 142C (2006) 77-85.
95. M.E. Rubio-Gozalbo, P. Vos, P.P. Forget, S.B. Van Der Meer, R.J. Wanders, H.R. Waterham, J.A. Bakker, Acta Paediatr. 92 (2003) 501-504.
96. B.N. Limketkai, S.D. Zucker, J. Gen. Intern. Med. 23 (2008) 210-213.
97. P. Ling, D.J. Lee, E.M. Yoshida, S. Sirrs, J. Med. Case Rep. 6 (2012) 227.
98. H. Ogier de Baulny, M. Schiff, C. Dionisi-Vici, Mol. Genet. Metab. 106 (2012) 12-17.
99. M. Palacin, J. Bertran, J. Chillaron, R. Estevez, A. Zorzano, Mol. Genet. Metab. 81 (Suppl. 1) (2004) S27-S37.
100. S. Broer, Am. J. Physiol. Cell Physiol. 293 (2007) C540-C541.
101. M.R. Baumgartner, C.A. Hu, S. Almashanu, G. Steel, C. Obie, B. Aral, D. Rabier, P. Kamoun, J.M. Saudubray, D. Valle, Hum. Mol. Genet. 9 (2000) 2853-2858.
102. M.R. Baumgartner, D. Rabier, M.C. Nassogne, J.L. Dufier, J.P. Padovani, P. Kamoun, D. Valle, J.M. Saudubray, Eur. J. Pediatr. 164 (2005) 31-36.
103. L.S. Bicknell, J. Pitt, S. Aftimos, R. Ramadas, M.A. Maw, S.P. Robertson, Eur. J. Hum. Genet. 16 (2008) 1176-1186.
104. D. Martinelli, J. Häberle, V. Rubio, C. Giunta, I. Hausser, R. Carrozzo, N. Gougeard, C. Marco-Marin, B.M. Goffredo, M.C. Meschini, E. Bevivino, S. Boenzi, G.S. Colafati, F. Brancati, M.R. Baumgartner, C. Dionisi-Vici, J. Inherit. Metab. Dis. 35 (2012) 761-776.
105. S. Zampatti, M. Castori, B. Fischer, P. Ferrari, L. Garavelli, C. Dionisi-Vici, E. Agolini, A. Wischmeijer, E. Morava, G. Novelli, J. Haberle, U. Kornak, F. Brancati, Am. J. Med. Genet. A 158A (2012) 927-931.
106. C.A. Stanley, Y.K. Lieu, B.Y. Hsu, A.B. Burlina, C.R. Greenberg, N.J. Hopwood, K. Perlman, B.H. Rich, E. Zammarchi, M. Poncz, New Engl. J. Med. 338 (1998) 1352-1357.
107. M.M. Adeva, G. Souto, N. Blanco, C. Donapetry, Metabolism 61 (2012) 1495-1511.
108. R. Santer, M. Kinner, M. Passarge, A. Superti-Furga, E. Mayatepek, T. Meissner, R. Schneppenheim, J. Schaub, Hum. Genet. 108 (2001) 66-71.
109. P. De Lonlay, C. Benelli, F. Fouque, A. Ganguly, B. Aral, C. Dionisi-Vici, G. Touati, C. Heinrichs, D. Rabier, P. Kamoun, J.J. Robert, C. Stanley, J.M. Saudubray, Pediatr. Res. 50 (2001) 353-357.
110. A. Munnich, P. Rustin, Am. J. Med. Genet. 106 (2001) 4-17.
111. T. Honzik, M. Tesarova, M. Magner, J. Mayr, P. Jesina, K. Vesela, L. Wenchich, K. Szentivanyi, H. Hansikova, W. Sperl, J. Zeman, J. Inherit. Metab. Dis. 35 (2012) 749-759.
112. A. Cizkova, V. Stranecky, J.A. Mayr, M. Tesarova, V. Havlickova, J. Paul, R. Ivanek, A.W. Kuss, H. Hansikova, V. Kaplanova, M. Vrbacky, H. Hartmannova, L. Noskova, T. Honzik, Z. Drahota, M. Magner, K. Hejzlarova, W. Sperl, J. Zeman, J. Houstek, S. Kmoch, Nat. Genet. 40 (2008) 1288-1290.
113. T. Honzik, M. Tesarova, J.A. Mayr, H. Hansikova, P. Jesina, O. Bodamer, J. Koch, M. Magner, P. Freisinger, M. Huemer, O. Kostkova, R. van Coster, S. Kmoch, J. Houstek, W. Sperl, J. Zeman, Arch. Dis. Child. 95 (2010) 296-301.
114. G.K. Brown, R.D. Scholem, S.M. Hunt, J.R. Harrison, A.C. Pollard, J. Inherit. Metab. Dis. 10 (1987) 359-366.
115. D.J. Byrd, H.P. Krohn, L. Winkler, C. Steinborn, M. Hadam, J. Brodehl, D.H. Hunneman, Eur. J. Pediatr. 148 (1989) 543-547.
116. J. Albrecht, E.A. Jones, J. Neurol. Sci. 170 (1999) 138-146.
117. D. Häussinger, B. Görg, R. Reinehr, F. Schliess, Metab. Brain Dis. 20 (2005) 285-294.
118. B. Görg, N. Qvartskhava, P. Voss, T. Grune, D. Häussinger, F. Schliess, FEBS Lett. 581 (2007) 84-90.
119. D. Häussinger, B. Görg, Curr. Opin. Clin. Nutr. Metab. Care 13 (2010) 87-92.
120. P. McEwan, D. Simpson, J.M. Kirk, D.G. Barr, K.J. McKenzie, Arch. Dis. Child. 84 (2001) 512-513.
121. Y.H. Chen, T.J. Chiou, Y.N. Hsu, C.Y. Liu, Hematol. Oncol. Stem Cell Ther. 3 (2010) 199-202.
122. E.H. Martinez de Lapiscina, M.E. Aguirre, T.C. Giadas, M.T. Alvarez, Can. J. Neurol. Sci. 39 (2012) 553-554.
123. C. Jorck, W. Kiess, J.F. Weigel, U. Mutze, U. Bierbach, S. Beblo, Pediatr. Hematol. Oncol. 28 (2011) 3-9.
124. K.W. Ryder, J.F. Olson, R.J. Kahnoski, R.C. Karn, T.O. Oei, J. Urol. 132 (1984) 995-997.
125. R.G. Hahn, L. Sandfeldt, Scand. J. Urol. Nephrol. 33 (1999) 222-227.
126. S. Kapila, M. Saba, C.H. Lin, E.V. Bawle, Jpen 25 (2001) 286-288.
127. J. Häberle, B. Görg, A. Toutain, F. Rutsch, J.F. Benoist, A. Gelot, A.L. Suc, H.G. Koch, F. Schliess, D. Häussinger, J. Inherit. Metab. Dis. 29 (2006) 352-358.
128. J. Häberle, N. Shahbeck, K. Ibrahim, B. Schmitt, I. Scheer, R. O'Gorman, F.A. Chaudhry, T. Ben-Omran, Orphanet J. Rare Dis. 7 (2012) 48.
129. G.R. Lichtenstein, Y.X. Yang, F.A. Nunes, J.D. Lewis, M. Tuchman, G. Tino, L.R. Kaiser, H.I. Palevsky, R.M. Kotloff, E.E. Furth, J.E. Bavaria, M.M. Stecker, P. Kaplan, G.T. Berry, Ann. Intern. Med. 132 (2000) 283-287.
130. S.M. Davies, E. Szabo, J.E. Wagner, N.K. Ramsay, D.J. Weisdorf, Bone Marrow Transplant. 17 (1996) 1119-1125.
131. M. Tuchman, G.R. Lichtenstein, B.S. Rajagopal, M.T. McCann, E.E. Furth, J. Bavaria, P.B. Kaplan, J.B. Gibson, G.T. Berry, Ann. Intern. Med. 127 (1997) 446-449.
132. N. Tse, S. Cederbaum, J.A. Glaspy, Am. J. Hematol. 38 (1991) 140-141.
133. T. Yamagami, R. Yoshimatsu, T. Matsumoto, K. Terayama, A. Nishiumra, Y. Maeda, T. Nishimura, J. Pediatr. Surg. 42 (2007) 1949-1952.
134. R.A. Ballard, B. Vinocur, J.W. Reynolds, R.P. Wennberg, A. Merritt, L. Sweetman, W.L. Nyhan, New Engl. J. Med. 299 (1978) 920-925.
135. M.L. Hudak, M.D. Jones Jr., S.W. Brusilow, J. Pediatr. 107 (1985) 712-719.
136. C. Bachmann, in: N. Blau, M. Duran, M.E. Blaskovic, K.M. Gibson (Eds.), Physicians Guide to the Laboratory Diagnosis of Metabolic Diseases, Springer, Berlin Heidelberg, 2003, pp. 261-276.
137. M. Tuchman, M.K. Georgieff, J. Perinatol. 12 (1992) 234-236.
138. J.A. Camacho, R. Mardach, N. Rioseco-Camacho, E. Ruiz-Pesini, O. Derbeneva, D. Andrade, F. Zaldivar, Y. Qu, S.D. Cederbaum, Pediatr. Res. 60 (2006) 423-429.
139. G. Fiermonte, V. Dolce, L. David, F.M. Santorelli, C. Dionisi-Vici, F. Palmieri, J.E. Walker, J. Biol. Chem. 278 (2003) 32778-32783.
140. B. Plecko, in: C. Bachmann, J. Häberle, J.V. Leonard (Eds.), Pathophysiology and Management of Hyperammonemia, SPS Publications, Heilbronn, 2006, pp. 100-113.