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Volumn 49, Issue 3, 2012, Pages 214-228

Severe hyperammonaemia in adults not explained by liver disease

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ANTICONVULSIVE AGENT; FATTY ACID; GLUTAMIC ACID DERIVATIVE; GLUTAMINE; N CARBAMYL L GLUTAMIC; OROTIC ACID; SALICYLIC ACID; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 84861498443     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1258/acb.2011.011206     Document Type: Review
Times cited : (60)

References (137)
  • 1
    • 0023277382 scopus 로고
    • Biochemistry and physiology of brain ammonia
    • Cooper AJL, Plum P. Biochemistry and physiology of brain ammonia. Physiol Rev 1987;67:440-519
    • (1987) Physiol Rev , vol.67 , pp. 440-519
    • Cooper, A.J.L.1    Plum, P.2
  • 2
    • 69249202553 scopus 로고    scopus 로고
    • Ammonia toxicity and its prevention in inherited defects of the urea cycle
    • Walker V. Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes Obes Metab 2009;11:823-35
    • (2009) Diabetes Obes Metab , vol.11 , pp. 823-835
    • Walker, V.1
  • 5
    • 0031879678 scopus 로고    scopus 로고
    • Effects of hyperammonaemia on brain function
    • Butterworth RF. Effects of hyperammonaemia on brain function. J Inherit Metab Dis 1998;21(Suppl. 1):6-20
    • (1998) J Inherit Metab Dis , vol.21 , Issue.SUPPL. 1 , pp. 6-20
    • Butterworth, R.F.1
  • 7
    • 0020019301 scopus 로고
    • Glutamine utilization by the small intestine
    • New York: John Wiley
    • Windmueller HG. Glutamine utilization by the small intestine. In: Meister A, ed. Advances in Enzymology. New York: John Wiley, 1982: 201-37
    • (1982) Meister A, ed. Advances in Enzymology. , pp. 201-237
    • Windmueller, H.G.1
  • 8
    • 0015395015 scopus 로고
    • Ammonia encephalopathy secondary to ureterosigmoidostomy: a case report
    • Mounger EJ, Branson AD. Ammonia encephalopathy secondary to ureterosigmoidostomy: a case report. J Urol 1972;108:411-2
    • (1972) J Urol , vol.108 , pp. 411-412
    • Mounger, E.J.1    Branson, A.D.2
  • 9
    • 0022456796 scopus 로고
    • Functional heterogeneity of periportal and perivenous hepatocytes
    • Jungermann K. Functional heterogeneity of periportal and perivenous hepatocytes. Enzyme 1986;35:161-80
    • (1986) Enzyme , vol.35 , pp. 161-180
    • Jungermann, K.1
  • 10
  • 11
    • 0029690198 scopus 로고    scopus 로고
    • Urea cycle disorders: diagnosis, pathophysiology, and therapy
    • Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996;43:127-70
    • (1996) Adv Pediatr , vol.43 , pp. 127-170
    • Brusilow, S.W.1    Maestri, N.E.2
  • 12
    • 0001564260 scopus 로고    scopus 로고
    • Urea cycle enzymes.
    • Scriver CR, Beaudet D, Valle D, Sly WS, eds. 8th edn. New York: McGraw-Hill
    • Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet D, Valle D, Sly WS, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 2001:1909-61
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 1909-1961
    • Brusilow, S.W.1    Horwich, A.L.2
  • 13
    • 0035139967 scopus 로고    scopus 로고
    • Proceedings of a consensus conference for the management of patients with urea cycle disorders
    • Summar M, Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr 2001;138(Suppl.):S6-10
    • (2001) J Pediatr , vol.138 , Issue.SUPPL.
    • Summar, M.1    Tuchman, M.2
  • 14
    • 34249791195 scopus 로고    scopus 로고
    • Orotic acid excretion and arginine metabolism
    • Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr 2007;137:1656S-61S
    • (2007) J Nutr , vol.137
    • Brosnan, M.E.1    Brosnan, J.T.2
  • 15
    • 4344606134 scopus 로고    scopus 로고
    • Orotic aciduria and plasma urea-cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet
    • Pita AM, Fernandez-Bustos A, Rodes M, et al. Orotic aciduria and plasma urea-cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. JPEN 2004;28:315-23
    • (2004) JPEN , vol.28 , pp. 315-323
    • Pita, A.M.1    Fernandez-Bustos, A.2    Rodes, M.3
  • 16
    • 60449098799 scopus 로고    scopus 로고
    • Identifying the direct effects of ammonia on the brain
    • Bosoi CR, Rose CF. Identifying the direct effects of ammonia on the brain. Metab Brain Dis 2009;24:95-102
    • (2009) Metab Brain Dis , vol.24 , pp. 95-102
    • Bosoi, C.R.1    Rose, C.F.2
  • 17
    • 35449003657 scopus 로고    scopus 로고
    • Hyperammonemia in the ICU
    • Clay AS, Hainline BE. Hyperammonemia in the ICU. Chest 2007;132:1368-78
    • (2007) Chest , vol.132 , pp. 1368-1378
    • Clay, A.S.1    Hainline, B.E.2
  • 18
    • 0024360348 scopus 로고
    • Periodic hyperammonemic encephalopathy associated with a ureterosigmoidostomy
    • Cascino GD, Jensen JM, Nelson LA, Schutta HS. Periodic hyperammonemic encephalopathy associated with a ureterosigmoidostomy. Mayo Clin Proc 1989;64:653-6
    • (1989) Mayo Clin Proc , vol.64 , pp. 653-656
    • Cascino, G.D.1    Jensen, J.M.2    Nelson, L.A.3    Schutta, H.S.4
  • 19
    • 0030864157 scopus 로고    scopus 로고
    • Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy
    • Michalak A, Butterworth RF. Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy. Metab Brain Dis 1997;12:171-82
    • (1997) Metab Brain Dis , vol.12 , pp. 171-182
    • Michalak, A.1    Butterworth, R.F.2
  • 20
    • 0034748040 scopus 로고    scopus 로고
    • Non-hepatic hyperammonaemia: an important, potentially reversible cause of encephalopathy
    • Hawkes ND, Thomas GAO, Jurewicz A, et al. Non-hepatic hyperammonaemia: an important, potentially reversible cause of encephalopathy. Postgrad Med J 2001;77:717-22
    • (2001) Postgrad Med J , vol.77 , pp. 717-722
    • Hawkes, N.D.1    Thomas, G.A.O.2    Jurewicz, A.3
  • 23
    • 51349111824 scopus 로고    scopus 로고
    • Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
    • Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008;97:1420-5
    • (2008) Acta Paediatr , vol.97 , pp. 1420-1425
    • Summar, M.L.1    Dobbelaere, D.2    Brusilow, S.3    Lee, B.4
  • 24
    • 50149083717 scopus 로고    scopus 로고
    • Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia
    • Lichter-Konecki U. Profiling of astrocyte properties in the hyperammonaemic brain: shedding new light on the pathophysiology of the brain damage in hyperammonaemia. J Inherit Metab Dis 2008;31:492-502
    • (2008) J Inherit Metab Dis , vol.31 , pp. 492-502
    • Lichter-Konecki, U.1
  • 25
    • 77950339042 scopus 로고    scopus 로고
    • Brain imaging in urea cycle disorders
    • Gropman A. Brain imaging in urea cycle disorders. Mol Genet Metab 2010;100(Suppl. 1):S20-30
    • (2010) Mol Genet Metab , vol.100 , Issue.SUPPL. 1
    • Gropman, A.1
  • 26
    • 33750608704 scopus 로고    scopus 로고
    • Glutamine: a Trojan horse in ammonia neurotoxicity
    • Albrecht J, Norenberg MD. Glutamine: a Trojan horse in ammonia neurotoxicity. Hepatology 2006;44:788-94
    • (2006) Hepatology , vol.44 , pp. 788-794
    • Albrecht, J.1    Norenberg, M.D.2
  • 27
    • 0036096070 scopus 로고    scopus 로고
    • Direct and indirect enhancement of GABAergic neurotransmission by ammonia: implications for the pathogenesis of hyperammonemic syndromes
    • Basile AS. Direct and indirect enhancement of GABAergic neurotransmission by ammonia: implications for the pathogenesis of hyperammonemic syndromes. Neurochem Int 2002;41:115-22
    • (2002) Neurochem Int , vol.41 , pp. 115-122
    • Basile, A.S.1
  • 29
    • 1642465556 scopus 로고    scopus 로고
    • Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
    • Stanley CA. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. Mol Genet Metab 2004;81(Suppl. 1):S45-51
    • (2004) Mol Genet Metab , vol.81 , Issue.SUPPL. 1
    • Stanley, C.A.1
  • 30
    • 1642465541 scopus 로고    scopus 로고
    • Problems in the management of urea cycle disorders
    • Wilcken B. Problems in the management of urea cycle disorders. Mol Genet Metab 2004;81:S86-91
    • (2004) Mol Genet Metab , vol.81
    • Wilcken, B.1
  • 31
    • 84872498131 scopus 로고    scopus 로고
    • Experience of urea cycle disorders in the United Kingdom
    • Chakrapani A, Champion M, Grunewald S, et al. Experience of urea cycle disorders in the United Kingdom. J Inherit Metab Dis 2010;33(Suppl. 1):S119
    • (2010) J Inherit Metab Dis , vol.33 , Issue.SUPPL. 1
    • Chakrapani, A.1    Champion, M.2    Grunewald, S.3
  • 32
    • 46749144467 scopus 로고    scopus 로고
    • Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    • Tuchman M, Lee B, Lichter-Konecki U, et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008;94:397-402
    • (2008) Mol Genet Metab , vol.94 , pp. 397-402
    • Tuchman, M.1    Lee, B.2    Lichter-Konecki, U.3
  • 33
    • 69249222189 scopus 로고    scopus 로고
    • Disorders of the urea cycle and related enzymes
    • Saudubray J-M, van den Berghe G, Walter JH, eds.4th edn. Heidelberg: Springer Medizin Verlag
    • Leonard JV. Disorders of the urea cycle and related enzymes. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases. 4th edn. Heidelberg: Springer Medizin Verlag, 2006: 263-72
    • (2006) Inborn Metabolic Diseases , pp. 263-272
    • Leonard, J.V.1
  • 34
    • 0036164461 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the human ornithine transcarbamylase gene
    • Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 2002;19:93-107
    • (2002) Hum Mutat , vol.19 , pp. 93-107
    • Tuchman, M.1    Jaleel, N.2    Morizono, H.3    Sheehy, L.4    Lynch, M.G.5
  • 35
    • 0031646276 scopus 로고    scopus 로고
    • The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
    • Maestri NE, Lord CR, Glynn M, Bale A, Brusilow SW. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine 1998;77:389-97
    • (1998) Medicine , vol.77 , pp. 389-397
    • Maestri, N.E.1    Lord, C.R.2    Glynn, M.3    Bale, A.4    Brusilow, S.W.5
  • 36
    • 0347949709 scopus 로고    scopus 로고
    • Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
    • Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 2004;55:80-6
    • (2004) Ann Neurol , vol.55 , pp. 80-86
    • Gyato, K.1    Wray, J.2    Huang, Z.J.3    Yudkoff, M.4    Batshaw, M.L.5
  • 37
    • 84872493999 scopus 로고    scopus 로고
    • Diagnosis of urea cycle disorders in adulthood: late-onset carbamyl phosphate synthetase I deficiency
    • (last checked 8 July 2011)
    • Yu R, Potter M. Diagnosis of urea cycle disorders in adulthood: late-onset carbamyl phosphate synthetase I deficiency. McMaster Univ Med J 2010;7:30-32. See www.mumj.org/Issues/v7_2010/articles/ (last checked 8 July 2011)
    • (2010) McMaster Univ Med J , vol.7 , pp. 3032
    • Yu, R.1    Potter, M.2
  • 38
    • 51049098118 scopus 로고    scopus 로고
    • Acute fatal presentation of ornithine transcarbamylase deficiency in a previous healthy male
    • Klein OD, Kostiner DR, Weisiger K, et al. Acute fatal presentation of ornithine transcarbamylase deficiency in a previous healthy male. Hepatol Int 2008;2:390-4
    • (2008) Hepatol Int , vol.2 , pp. 390-394
    • Klein, O.D.1    Kostiner, D.R.2    Weisiger, K.3
  • 39
    • 75549083005 scopus 로고    scopus 로고
    • Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet
    • Ben-Ari Z, Dalai A, Morry A, et al. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. J Hepatol 2010;52:292-5
    • (2010) J Hepatol , vol.52 , pp. 292-295
    • Ben-Ari, Z.1    Dalai, A.2    Morry, A.3
  • 40
    • 52949099497 scopus 로고    scopus 로고
    • Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency
    • Panlaqui OM, Tran K, Johns A, McGill J, White H. Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency. Intensive Care Med 2008;34:1922-4
    • (2008) Intensive Care Med , vol.34 , pp. 1922-1924
    • Panlaqui, O.M.1    Tran, K.2    Johns, A.3    McGill, J.4    White, H.5
  • 41
    • 84872492125 scopus 로고    scopus 로고
    • OTC gene mutations associated with fatal hyperammonemia in previously healthy adult patients
    • Cavicchi C, Morrone A, Parini R, et al. OTC gene mutations associated with fatal hyperammonemia in previously healthy adult patients. J Inherit Metab Dis 2010;33(Suppl. 1):S120
    • (2010) J Inherit Metab Dis , vol.33 , Issue.SUPPL. 1
    • Cavicchi, C.1    Morrone, A.2    Parini, R.3
  • 42
    • 33846046891 scopus 로고    scopus 로고
    • Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery
    • Hu WT, Kantarci OH, Merritt JL II, et al. Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. Arch Neurol 2007;64:126-8
    • (2007) Arch Neurol , vol.64 , pp. 126-128
    • Hu, W.T.1    Kantarci, O.H.2    Merritt II, J.L.3
  • 43
    • 26844529765 scopus 로고    scopus 로고
    • Unmasked adult-onset urea cycle disorders in the critical care setting
    • Summar ML, Barr F, Dawling S, et al. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005;21(Suppl.):S1-8
    • (2005) Crit Care Clin , vol.21 , Issue.SUPPL.
    • Summar, M.L.1    Barr, F.2    Dawling, S.3
  • 44
    • 1642417692 scopus 로고    scopus 로고
    • Unusual causes of hyperammonemia in the ED
    • Weng TI, Shih FF, Chen WJ. Unusual causes of hyperammonemia in the ED. Am J Emerg Med 2004;22:105-7
    • (2004) Am J Emerg Med , vol.22 , pp. 105-107
    • Weng, T.I.1    Shih, F.F.2    Chen, W.J.3
  • 46
    • 0033575994 scopus 로고    scopus 로고
    • Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency
    • Plöchl W, Spiss CK, Plöchl E. Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency. N Engl J Med 1999;341:921-2
    • (1999) N Engl J Med , vol.341 , pp. 921-922
    • Plöchl, W.1    Spiss, C.K.2    Plöchl, E.3
  • 47
    • 0021166622 scopus 로고
    • Hyperammonemia after transurethral resection of the prostate: a report of 2 cases
    • Ryder KW, Olson JF, Kahnoski RJ, Karn RC, Oei TO. Hyperammonemia after transurethral resection of the prostate: a report of 2 cases. J Urol 1984;132:995-7
    • (1984) J Urol , vol.132 , pp. 995-997
    • Ryder, K.W.1    Olson, J.F.2    Kahnoski, R.J.3    Karn, R.C.4    Oei, T.O.5
  • 50
    • 0242352621 scopus 로고    scopus 로고
    • Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency
    • Peterson DE. Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency. Obstet Gynaecol 2003;102:1212-5
    • (2003) Obstet Gynaecol , vol.102 , pp. 1212-1215
    • Peterson, D.E.1
  • 51
    • 77749302011 scopus 로고    scopus 로고
    • Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes
    • Tihtonen K, Uotila J, Lähde J, Salo M, Keskinen P. Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes. Acta Obstet Gynecol Scand 2010;89:404-6
    • (2010) Acta Obstet Gynecol Scand , vol.89 , pp. 404-406
    • Tihtonen, K.1    Uotila, J.2    Lähde, J.3    Salo, M.4    Keskinen, P.5
  • 52
    • 84872494825 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man. Hyperornithinemiahyperammonemia-homocitrullinuria syndrome.(last checked 8 July 2011)MIM ID#238970. See
    • Online Mendelian Inheritance in Man. Hyperornithinemiahyperammonemia-homocitrullinuria syndrome. MIM ID#238970. See http://omim.org/entry/238970 (last checked 8 July 2011)
  • 53
    • 0025131042 scopus 로고
    • Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
    • Tuchman M, Knopman DS, Shih VE. Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Arch Neurol 1990;47:1134-7
    • (1990) Arch Neurol , vol.47 , pp. 1134-1137
    • Tuchman, M.1    Knopman, D.S.2    Shih, V.E.3
  • 54
    • 84872497045 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man. Lysinuric protein intolerance. MIM ID # 222700. See (last checked 8 July 2011)
    • Online Mendelian Inheritance in Man. Lysinuric protein intolerance. MIM ID # 222700. See http://www.omim.org/entry/222700 (last checked 8 July 2011)
  • 55
    • 0024413457 scopus 로고
    • Familial lysinuric protein intolerance presenting as coma in two siblings
    • Shaw PJ, Dale G, Bates D. Familial lysinuric protein intolerance presenting as coma in two siblings. J Neurol Neurosurg Psych 1989;52:648-51
    • (1989) J Neurol Neurosurg Psych , vol.52 , pp. 648-651
    • Shaw, P.J.1    Dale, G.2    Bates, D.3
  • 57
    • 0029799872 scopus 로고    scopus 로고
    • Lysinuric protein intolerance presenting as coma in a middle-aged man
    • Gare M, Shalit M, Gutman A. Lysinuric protein intolerance presenting as coma in a middle-aged man. West J Med 1996;165:231-3
    • (1996) West J Med , vol.165 , pp. 231-233
    • Gare, M.1    Shalit, M.2    Gutman, A.3
  • 58
    • 84872501963 scopus 로고    scopus 로고
    • last checked 8 July 2011)
    • Citrin deficiency. See (last update
    • Kobayashi K, Saheki T. Citrin deficiency. GeneReviews. See http://www.ncbi.nlm.nih.gov/books/NBK1181/ (last update 2008, last checked 8 July 2011)
    • (2008) GeneReviews
    • Kobayashi, K.1    Saheki, T.2
  • 60
    • 2942568154 scopus 로고    scopus 로고
    • How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
    • Grünewald S, Fairbanks L, Genet S, et al. How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? J Inherit Metab Dis 2004;27:179-86
    • (2004) J Inherit Metab Dis , vol.27 , pp. 179-186
    • Grünewald, S.1    Fairbanks, L.2    Genet, S.3
  • 61
    • 0035139916 scopus 로고    scopus 로고
    • Laboratory evaluation of urea cycle disorders
    • Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr 2001;138:S21-9
    • (2001) J Pediatr , vol.138
    • Steiner, R.D.1    Cederbaum, S.D.2
  • 62
    • 0035139898 scopus 로고    scopus 로고
    • The Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders
    • The Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr 2001;138(Suppl.):S1-5
    • (2001) J Pediatr , vol.138 , Issue.SUPPL.
  • 63
    • 79151472576 scopus 로고    scopus 로고
    • Clinical practice: the management of hyperammonemia
    • Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr 2011;170:21-34.
    • (2011) Eur J Pediatr , vol.170 , pp. 21-34
    • Häberle, J.1
  • 64
    • 0035140623 scopus 로고    scopus 로고
    • Long-term management of patients with urea cycle disorders
    • Berry GT, Steiner D. Long-term management of patients with urea cycle disorders. J Pediatr 2001;138:S56-61
    • (2001) J Pediatr , vol.138
    • Berry, G.T.1    Steiner, D.2
  • 65
    • 84872498055 scopus 로고    scopus 로고
    • British Inherited Metabolic Disease Group. See (last checked 8 July 2011) Hyperammonaemia: urea cycle disorders. BIMDG
    • British Inherited Metabolic Disease Group. Guidelines; BIMDG emergency protocols. Hyperammonaemia: urea cycle disorders. BIMDG 2008. See http://www.bimdg.org.uk/protocols/topics.asp (last checked 8 July 2011)
    • (2008) Guidelines; BIMDG emergency protocols
  • 66
    • 37449022958 scopus 로고    scopus 로고
    • Nutritional management of patients with urea cycle disorders
    • Singh RH. Nutritional management of patients with urea cycle disorders. J Inherit Metab Dis 2007;30:880-7
    • (2007) J Inherit Metab Dis , vol.30 , pp. 880-887
    • Singh, R.H.1
  • 67
    • 0035145334 scopus 로고    scopus 로고
    • Alternative pathway therapy for urea cycle disorders: twenty years later
    • Batshaw ML, MacArthur RB, Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 2001;138(Suppl.):S46-55
    • (2001) J Pediatr , vol.138 , Issue.SUPPL.
    • Batshaw, M.L.1    MacArthur, R.B.2    Tuchman, M.3
  • 68
    • 0034076850 scopus 로고    scopus 로고
    • Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
    • Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. J Inherit Metab Dis 2000;23:129-36
    • (2000) J Inherit Metab Dis , vol.23 , pp. 129-136
    • Praphanphoj, V.1    Boyadjiev, S.A.2    Waber, L.J.3    Brusilow, S.W.4    Geraghty, M.T.5
  • 69
    • 84969975373 scopus 로고    scopus 로고
    • Inborn errors of metabolism
    • treatment and medication. See (last checked 8 July 2011)
    • Weiner DL. Inborn errors of metabolism: treatment and medication 2009. See http://emedicine.medscape.com/article/804757-treatment (last checked 8 July 2011)
    • (2009)
    • Weiner, D.L.1
  • 70
    • 77953019684 scopus 로고    scopus 로고
    • Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control
    • Lee B, Rhead W, Diaz GA, et al. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab 2010;100:221-8
    • (2010) Mol Genet Metab , vol.100 , pp. 221-228
    • Lee, B.1    Rhead, W.2    Diaz, G.A.3
  • 72
    • 77950338976 scopus 로고    scopus 로고
    • Nitrogen sparing therapy revisited 2009
    • Enns GM. Nitrogen sparing therapy revisited 2009. Mol Genet Metab 2010;100(Suppl. 1):S65-71
    • (2010) Mol Genet Metab , vol.100 , Issue.SUPPL. 1
    • Enns, G.M.1
  • 73
    • 84897366987 scopus 로고    scopus 로고
    • New developments in the treatment of hyperammonemia: emerging use of carglumic acid
    • Daniotti M, La Marca G, Fiorini P, Filippi L. New developments in the treatment of hyperammonemia: emerging use of carglumic acid. Int J General Med 2011;4:21-8
    • (2011) Int J General Med , vol.4 , pp. 21-28
    • Daniotti, M.1    La Marca, G.2    Fiorini, P.3    Filippi, L.4
  • 74
    • 1642506318 scopus 로고    scopus 로고
    • The role of liver transplantation in urea cycle disorders
    • Leonard JV, McKiernan PJ. The role of liver transplantation in urea cycle disorders. Mol Genet Metab 2004;81:S74-8
    • (2004) Mol Genet Metab , vol.81
    • Leonard, J.V.1    McKiernan, P.J.2
  • 75
    • 65649095157 scopus 로고    scopus 로고
    • One liver for four children: first clinical series of liver transplantation for severe neonatal urea cycle defects
    • Meyberg J, Das AM, Hoerster F, et al. One liver for four children: first clinical series of liver transplantation for severe neonatal urea cycle defects. Transplantation 2009;87:636-41
    • (2009) Transplantation , vol.87 , pp. 636-641
    • Meyberg, J.1    Das, A.M.2    Hoerster, F.3
  • 76
    • 0033977721 scopus 로고    scopus 로고
    • Gene therapy-a loss of innocence
    • Gene therapy-a loss of innocence. Nat Med 2000;6:1
    • (2000) Nat Med , vol.6 , pp. 1
  • 77
    • 0034513788 scopus 로고    scopus 로고
    • First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
    • Ray PF, Gigarel N, Bonnefont JP, et al. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn 2000;20:1048-54
    • (2000) Prenat Diagn , vol.20 , pp. 1048-1054
    • Ray, P.F.1    Gigarel, N.2    Bonnefont, J.P.3
  • 80
    • 76949094228 scopus 로고    scopus 로고
    • Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
    • Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis 2009;32:675-83
    • (2009) J Inherit Metab Dis , vol.32 , pp. 675-683
    • Lang, T.F.1
  • 81
    • 84872491190 scopus 로고    scopus 로고
    • Diagnostic approach to disorders of fat oxidation for clinicians
    • See (last checked 8 July 2011)
    • Roe CR. Diagnostic approach to disorders of fat oxidation for clinicians. FOD Support Group. See http://www.fodsupport.org/dx_fod.htm (last checked 8 July 2011)
    • FOD Support Group
    • Roe, C.R.1
  • 82
    • 33747864871 scopus 로고    scopus 로고
    • Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
    • Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol 2006;13:923-9
    • (2006) Eur J Neurol , vol.13 , pp. 923-929
    • Angelini, C.1    Federico, A.2    Reichmann, H.3    Lombes, A.4    Chinnery, P.5    Turnbull, D.6
  • 83
    • 77957593706 scopus 로고    scopus 로고
    • The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
    • Schatz UA, Ensenauer R. The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. J Inherit Metab Dis 2010;33:513-20
    • (2010) J Inherit Metab Dis , vol.33 , pp. 513-520
    • Schatz, U.A.1    Ensenauer, R.2
  • 84
    • 0345700708 scopus 로고    scopus 로고
    • Kü hnelt P, Block A, et al. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognising fatty acid oxidation defects in adults
    • Kluge S, Kü hnelt P, Block A, et al. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognising fatty acid oxidation defects in adults. Crit Care Med 2003;31:1273-6
    • (2003) Crit Care Med , vol.31 , pp. 1273-1276
    • Kluge, S.1
  • 86
    • 0033519714 scopus 로고    scopus 로고
    • A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
    • Ibdah JA, Bennett MJ, Rinaldo P, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999;340:1723-31
    • (1999) N Engl J Med , vol.340 , pp. 1723-1731
    • Ibdah, J.A.1    Bennett, M.J.2    Rinaldo, P.3
  • 87
    • 77957602067 scopus 로고    scopus 로고
    • The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
    • Wanders RJA, Ruiter JPN, IJIst L, Waterham HR, Houten SM. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis 2010;33:479-94
    • (2010) J Inherit Metab Dis , vol.33 , pp. 479-494
    • Wanders, R.J.A.1    Ruiter, J.P.N.2    Ijist, L.3    Waterham, H.R.4    Houten, S.M.5
  • 88
    • 0018595957 scopus 로고
    • Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic academia
    • Coude FX, Sweetman L, Nyhan W. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic academia. J Clin Invest 1979;64:1544-51
    • (1979) J Clin Invest , vol.64 , pp. 1544-1551
    • Coude, F.X.1    Sweetman, L.2    Nyhan, W.3
  • 89
    • 0021059203 scopus 로고
    • Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes
    • Coude FX, Grimber G, Parvy P, Rabier D. Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes. Biochim Biophys Acta 1983;761:13-6
    • (1983) Biochim Biophys Acta , vol.761 , pp. 13-16
    • Coude, F.X.1    Grimber, G.2    Parvy, P.3    Rabier, D.4
  • 90
    • 0002911516 scopus 로고    scopus 로고
    • Disorders of propionate and methylmalonate metabolism
    • Scriver CR, Beaudet D, Valle D, Sly WS, eds. 8th edn. New York: McGraw-Hill
    • Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet D, Valle D, Sly WS, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 2001:2165-93
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 2165-93
    • Fenton, W.A.1    Gravel, R.A.2    Rosenblatt, D.S.3
  • 92
    • 0001922497 scopus 로고    scopus 로고
    • Lactic academia: disorders of pyruvate and pyruvate dehydrogenase
    • Scriver CR, Beaudet D, Valle D, Sly WS, eds. 8th edn. New York: McGraw-Hill
    • Robinson BH. Lactic academia: disorders of pyruvate and pyruvate dehydrogenase. In: Scriver CR, Beaudet D, Valle D, Sly WS, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 2001:2275-95
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 2275-95
    • Robinson, B.H.1
  • 95
    • 0031434551 scopus 로고    scopus 로고
    • Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy
    • Weinberg GL, Laurito CE, Geldner P, Pygon BH, Burton BK. Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy. J Clin Anaesth 1997;9:668-70
    • (1997) J Clin Anaesth , vol.9 , pp. 668-670
    • Weinberg, G.L.1    Laurito, C.E.2    Geldner, P.3    Pygon, B.H.4    Burton, B.K.5
  • 96
    • 0030690996 scopus 로고    scopus 로고
    • Profound biotinidase deficiency in two asymptomatic adults
    • Wolf B, Norrgard K, Pomponio RJ, et al. Profound biotinidase deficiency in two asymptomatic adults. Am J Med Genet 1997;73:5-9
    • (1997) Am J Med Genet , vol.73 , pp. 5-9
    • Wolf, B.1    Norrgard, K.2    Pomponio, R.J.3
  • 97
    • 31644438877 scopus 로고    scopus 로고
    • Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
    • Baykal T, Gokcay G, Gokdemir Y, et al. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis 2005;28:903-12
    • (2005) J Inherit Metab Dis , vol.28 , pp. 903-912
    • Baykal, T.1    Gokcay, G.2    Gokdemir, Y.3
  • 98
    • 77954377501 scopus 로고    scopus 로고
    • N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic academia
    • Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic academia. Pediatrics 2010;126:e208-14
    • (2010) Pediatrics , vol.126
    • Ah Mew, N.1    McCarter, R.2    Daikhin, Y.3    Nissim, I.4    Yudkoff, M.5    Tuchman, M.6
  • 102
    • 84977963316 scopus 로고    scopus 로고
    • Recurrent stupor associated with chronic valproic acid therapy and hyperammonemia
    • Stefan M, Bavli S. Recurrent stupor associated with chronic valproic acid therapy and hyperammonemia. Hospital Physician 2009;45:17-20
    • (2009) Hospital Physician , vol.45 , pp. 17-20
    • Stefan, M.1    Bavli, S.2
  • 103
    • 77957823635 scopus 로고    scopus 로고
    • Adult nonhepatic hyperammonemia: a case report and differential diagnosis
    • LaBuzetta JN, Yao JZ, Bourque DL, Zivin J. Adult nonhepatic hyperammonemia: a case report and differential diagnosis. Am J Med 2010;123:885-91
    • (2010) Am J Med , vol.123 , pp. 885-891
    • LaBuzetta, J.N.1    Yao, J.Z.2    Bourque, D.L.3    Zivin, J.4
  • 105
    • 0025109732 scopus 로고
    • Hyperammonemic encephalopathy in urinary diversion with urea-splitting urinary tract infection
    • Kaveggia FF, Thompson JS, Schafer EC, Fischer JL, Taylor RJ. Hyperammonemic encephalopathy in urinary diversion with urea-splitting urinary tract infection. Arch Intern Med 1990;150:2389-92
    • (1990) Arch Intern Med , vol.150 , pp. 2389-2392
    • Kaveggia, F.F.1    Thompson, J.S.2    Schafer, E.C.3    Fischer, J.L.4    Taylor, R.J.5
  • 106
    • 0022343598 scopus 로고
    • Hyperammonemic coma due to proteus infection
    • Kuntze JR, Weinberg AC, Ahlering TE. Hyperammonemic coma due to proteus infection. J Urol 1985;134:972-3
    • (1985) J Urol , vol.134 , pp. 972-973
    • Kuntze, J.R.1    Weinberg, A.C.2    Ahlering, T.E.3
  • 107
    • 0022392011 scopus 로고
    • The pathophysiology of hyperchloremic metabolic acidosis after urinary diversion through intestinal segments
    • Koch MO, McDougal WS. The pathophysiology of hyperchloremic metabolic acidosis after urinary diversion through intestinal segments. Surgery 1985;98:561-70
    • (1985) Surgery , vol.98 , pp. 561-570
    • Koch, M.O.1    McDougal, W.S.2
  • 108
    • 59649093036 scopus 로고    scopus 로고
    • Multiple myeloma and hyperammonemic encephalopathy: review of 27 cases
    • Lora-Tamayo J, Palom X, Sarrá J, et al. Multiple myeloma and hyperammonemic encephalopathy: review of 27 cases. Clin Lymphoma Myeloma 2008;8:363-9
    • (2008) Clin Lymphoma Myeloma , vol.8 , pp. 363-369
    • Lora-Tamayo, J.1    Palom, X.2    Sarrá, J.3
  • 110
    • 34548596943 scopus 로고    scopus 로고
    • Hyperammonemia encephalopathy: an important cause of neurological deterioration following chemotherapy
    • Nott L, Price TJ, Pittman K, Patterson K, Fletcher J. Hyperammonemia encephalopathy: an important cause of neurological deterioration following chemotherapy. Leuk Lymphoma 2007;48:1702-11
    • (2007) Leuk Lymphoma , vol.48 , pp. 1702-1711
    • Nott, L.1    Price, T.J.2    Pittman, K.3    Patterson, K.4    Fletcher, J.5
  • 111
    • 0022644970 scopus 로고
    • Acute encephalopathy and hyperammonaemia complicating treatment of acute lymphoblastic leukaemia with asparaginase
    • Leonard JV, Kay JDS. Acute encephalopathy and hyperammonaemia complicating treatment of acute lymphoblastic leukaemia with asparaginase. Lancet 1986;327:162-3
    • (1986) Lancet , vol.327 , pp. 162-163
    • Leonard, J.V.1    Kay, J.D.S.2
  • 113
    • 79952144533 scopus 로고    scopus 로고
    • Transient hyperammonemia due to L-asparaginase therapy in children with acute lymphoblastic leukaemia or non-Hodgkin lymphoma
    • Jörck C, Kiess W, Weigel JF, Mütze U, Bierbach U, Beblo S. Transient hyperammonemia due to L-asparaginase therapy in children with acute lymphoblastic leukaemia or non-Hodgkin lymphoma. Pediatr Haematol Oncol 2011;28:3-9
    • (2011) Pediatr Haematol Oncol , vol.28 , pp. 3-9
    • Jörck, C.1    Kiess, W.2    Weigel, J.F.3    Mütze, U.4    Bierbach, U.5    Beblo, S.6
  • 114
    • 0027318815 scopus 로고
    • Transient hyperammonemia related to chemotherapy with continuous infusion of high dose 5-fluorouracil
    • Liaw CC, Liaw SJ, Wang CH, Chiu MC, Huang JS. Transient hyperammonemia related to chemotherapy with continuous infusion of high dose 5-fluorouracil. Anticancer Drugs 1993;4:311-5
    • (1993) Anticancer Drugs , vol.4 , pp. 311-315
    • Liaw, C.C.1    Liaw, S.J.2    Wang, C.H.3    Chiu, M.C.4    Huang, J.S.5
  • 115
    • 77955523615 scopus 로고    scopus 로고
    • Genetic polymorphisms associated with 5-fluorouracil-induced neurotoxicity
    • Kim S-R, Park C-H, Park S, Park J-O, Lee J, Lee S-Y. Genetic polymorphisms associated with 5-fluorouracil-induced neurotoxicity. Chemotherapy 2010;56:313-7
    • (2010) Chemotherapy , vol.56 , pp. 313-317
    • Kim, S.-R.1    Park, C.-H.2    Park, S.3    Park, J.-O.4    Lee, J.5    Lee, S.-Y.6
  • 117
    • 0025059657 scopus 로고
    • Reye's syndrome and aspirin: a review
    • Hall SM. Reye's syndrome and aspirin: a review. Br J Clin Pract 1990;44(Suppl. 70):4-11
    • (1990) Br J Clin Pract , vol.44 , Issue.SUPPL. 70 , pp. 4-11
    • Hall, S.M.1
  • 118
    • 0023685057 scopus 로고
    • Inborn errors of metabolism in children referred with Reye's syndrome
    • Rowe PC, Valle D, Brusilow SW. Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern. JAMA 1988;260:3167-70
    • (1988) A changing pattern. JAMA , vol.260 , pp. 3167-3170
    • Rowe, P.C.1    Valle, D.2    Brusilow, S.W.3
  • 121
    • 0032964213 scopus 로고    scopus 로고
    • The mechanism of inhibition of b-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls
    • Glasgow JFT, Middleton B, Moore R, Gray A, Hill J. The mechanism of inhibition of b-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls. Biochim Biophys Acta 1999;1454:115-25
    • (1999) Biochim Biophys Acta , vol.1454 , pp. 115-125
    • Glasgow, J.F.T.1    Middleton, B.2    Moore, R.3    Gray, A.4    Hill, J.5
  • 122
    • 26644432066 scopus 로고    scopus 로고
    • Oxidative stress is responsible for mitochondrial permeability transition induction by salicylate in liver mitochondria
    • Battaglia V, Salvi M, Toninello A. Oxidative stress is responsible for mitochondrial permeability transition induction by salicylate in liver mitochondria. J Biol Chem 2005;280:33864-72
    • (2005) J Biol Chem , vol.280 , pp. 33864-33872
    • Battaglia, V.1    Salvi, M.2    Toninello, A.3
  • 123
  • 127
    • 0021449984 scopus 로고
    • Influences of specimen processing and storage conditions on results for plasma ammonia
    • Howanitz JH, Howanitz PJ, Skrodzki CA, Iwanski JA. Influences of specimen processing and storage conditions on results for plasma ammonia. Clin Chem 1984;30:906-8
    • (1984) Clin Chem , vol.30 , pp. 906-908
    • Howanitz, J.H.1    Howanitz, P.J.2    Skrodzki, C.A.3    Iwanski, J.A.4
  • 128
    • 0025046036 scopus 로고
    • Preanalytical increase of ammonia in blood specimens from healthy subjects
    • da Fonseca-Wollheim F. Preanalytical increase of ammonia in blood specimens from healthy subjects. Clin Chem 1990;36:1483-7
    • (1990) Clin Chem , vol.36 , pp. 1483-1487
    • da Fonseca-Wollheim, F.1
  • 129
    • 0035145289 scopus 로고    scopus 로고
    • Measurement of ammonia in blood
    • Barsotti RJ. Measurement of ammonia in blood. J Pediatr 2001;138:S11-20
    • (2001) J Pediatr , vol.138
    • Barsotti, R.J.1
  • 130
    • 84872498803 scopus 로고    scopus 로고
    • UK National Metabolic Biochemistry Network. See (last checked July 2011)
    • UK National Metabolic Biochemistry Network. Guidelines for the investigation of hyperammonaemia. See www.metbio.net (last checked July 2011)
    • Guidelines for the investigation of hyperammonaemia
  • 131
    • 75149159705 scopus 로고    scopus 로고
    • Non-specific interference in the measurement of plasma ammonia: importance of using a serum blank
    • Herrera DJ, Hutchin T, Fullerton D, Gray G. Non-specific interference in the measurement of plasma ammonia: importance of using a serum blank. Ann Clin Biochem 2010;47:81-3
    • (2010) Ann Clin Biochem , vol.47 , pp. 81-83
    • Herrera, D.J.1    Hutchin, T.2    Fullerton, D.3    Gray, G.4
  • 132
    • 84861510902 scopus 로고    scopus 로고
    • Blood ammonia meters-more than a flashy display
    • Losty H. Blood ammonia meters-more than a flashy display. BIMDG Bull 2004;26:9-11
    • (2004) BIMDG Bull , vol.26 , pp. 9-11
    • Losty, H.1
  • 133
    • 79951951211 scopus 로고    scopus 로고
    • Investigation of the child with an acute metabolic disorder
    • Cook P, Walker V. Investigation of the child with an acute metabolic disorder. J Clin Pathol 2011;64:181-91
    • (2011) J Clin Pathol , vol.64 , pp. 181-191
    • Cook, P.1    Walker, V.2
  • 134
    • 0028937251 scopus 로고
    • Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution
    • McCann MT, Thompson MM, Gueron IC, Tuchman M. Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution. Clin Chem 1995;41:739-43
    • (1995) Clin Chem , vol.41 , pp. 739-743
    • McCann, M.T.1    Thompson, M.M.2    Gueron, I.C.3    Tuchman, M.4
  • 135
    • 7044247759 scopus 로고    scopus 로고
    • Analysis of pyrimidine synthesis 'de novo' intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry
    • van Kuilenburg ABP, van Lenthe H, Löffler M, van Gennip AH. Analysis of pyrimidine synthesis 'de novo' intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry. Clin Chem 2004;50:2117-24
    • (2004) Clin Chem , vol.50 , pp. 2117-2124
    • van Kuilenburg, A.B.P.1    van Lenthe, H.2    Löffler, M.3    van Gennip, A.H.4
  • 136
    • 84861490776 scopus 로고    scopus 로고
    • Measurement of orotic acid in plasma for the diagnosis of urea cycle disorders
    • Turner C, Dalton RN. Measurement of orotic acid in plasma for the diagnosis of urea cycle disorders. J Inherit Metab Dis 2010;33(Suppl. 1):S121
    • (2010) J Inherit Metab Dis , vol.33 , Issue.SUPPL. 1
    • Turner, C.1    Dalton, R.N.2
  • 137
    • 84872494263 scopus 로고    scopus 로고
    • Rapid HPLC ESI-MS/MS method for the diagnosis of urea cycle defects
    • Rizzo C, Boenzi S, Goffredo BM, et al. Rapid HPLC ESI-MS/MS method for the diagnosis of urea cycle defects. J Inherit Metab Dis 2010;33(Suppl. 1):S120
    • (2010) J Inherit Metab Dis , vol.33 , Issue.SUPPL. 1
    • Rizzo, C.1    Boenzi, S.2    Goffredo, B.M.3


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