-
1
-
-
0001564260
-
Urea cycle enzymes
-
In 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 and Molecular and Bases of Inherited Disease. 8th edn. New York: McGraw-Hill, 2001; 1909-1961.
-
(2001)
The Metabolic and Molecular and Bases of Inherited Disease
, pp. 1909-1961
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
2
-
-
0035139967
-
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: S6-S10.
-
(2001)
J Pediatr
, vol.138
-
-
Summar, M.1
Tuchman, M.2
-
3
-
-
69249220938
-
Hyperammonaemia
-
In Clayton BE, Round JM eds. Oxford: Blackwell Scientific Publications
-
Walker V. Hyperammonaemia. In Clayton BE, Round JM eds. Clinical Biochemistry of the Sick Child. Oxford: Blackwell Scientific Publications, 1994; 100-120.
-
(1994)
Clinical Biochemistry of the Sick Child
, pp. 100-120
-
-
Walker, V.1
-
4
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, and therapy
-
Brusilow SW, Maestri NE. Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 1996; 43: 127-170.
-
(1996)
Adv Pediatr
, vol.43
, pp. 127-170
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
5
-
-
0031879761
-
Alternative pathway therapy for urea cycle disorders
-
Feillet F, Leonard JV. Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis 1998; 21 (Suppl. 1): 101-111.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 101-111
-
-
Feillet, F.1
Leonard, J.V.2
-
6
-
-
0034069490
-
Rates of urea production and hydrolysis and leucine oxidation change linearly over widely varying protein intakes in healthy adults
-
Young VR, El-Khoury AE, Ragoso CA, Forslund AH, Hambraeus L. Rates of urea production and hydrolysis and leucine oxidation change linearly over widely varying protein intakes in healthy adults. J Nutr 2000; 130: 761-766.
-
(2000)
J Nutr
, vol.130
, pp. 761-766
-
-
Young, V.R.1
El-Khoury, A.E.2
Ragoso, C.A.3
Forslund, A.H.4
Hambraeus, L.5
-
8
-
-
0023600197
-
Interorgan ammonia metabolism in health and disease: A surgeon's view
-
Souba WW. Interorgan ammonia metabolism in health and disease: A surgeon's view. J Parent Ent Nutr 1987; 11: 569-579.
-
(1987)
J Parent Ent Nutr
, vol.11
, pp. 569-579
-
-
Souba, W.W.1
-
9
-
-
0023277382
-
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
-
10
-
-
0020616408
-
The renal origin of sodium valproate-induced hyperammonemia in fasting humans
-
Warter JM, Brandt C, Marescaux C et al. The renal origin of sodium valproate-induced hyperammonemia in fasting humans. Neurology 1983; 33: 1136-1140.
-
(1983)
Neurology
, vol.33
, pp. 1136-1140
-
-
Warter, J.M.1
Brandt, C.2
Marescaux, C.3
-
11
-
-
0018898289
-
Respiratory fuels and nitrogen metabolism in vivo in small intestine of fed rats
-
Windmueller HG, Spaeth AE. Respiratory fuels and nitrogen metabolism in vivo in small intestine of fed rats. J Biol Chem 1980; 255: 107-112.
-
(1980)
J Biol Chem
, vol.255
, pp. 107-112
-
-
Windmueller, H.G.1
Spaeth, A.E.2
-
12
-
-
0020019301
-
Glutamine utilization by the small intestine
-
In Meister A ed. New York: John Wiley
-
Windmueller HG. Glutamine utilization by the small intestine. In Meister A ed. Advances in Enzymology. New York: John Wiley, 1982; 201-237.
-
(1982)
Advances in Enzymology
, pp. 201-237
-
-
Windmueller, H.G.1
-
13
-
-
0015395015
-
Ammonia encephalopathy secondary to ureterosigmoidostomy: A case report
-
Mounger EJ, Branson AD. Ammonia encephalopathy secondary to ureterosigmoidostomy: A case report. J Urol 1972; 108: 411-412.
-
(1972)
J Urol
, vol.108
, pp. 411-412
-
-
Mounger, E.J.1
Branson, A.D.2
-
14
-
-
0022456796
-
Functional heterogeneity of periportal and perivenous hepatocytes
-
Jungermann K. Functional heterogeneity of periportal and perivenous hepatocytes. Enzyme 1986; 35: 161-180.
-
(1986)
Enzyme
, vol.35
, pp. 161-180
-
-
Jungermann, K.1
-
15
-
-
0035127596
-
Ammonium in nervous tissue: Transport across cell membranes, fluxes from neurons to glial cells, and role in signalling
-
Marcaggi P, Coles JA. Ammonium in nervous tissue: Transport across cell membranes, fluxes from neurons to glial cells, and role in signalling. Prog Neurobiol 2001; 64: 157-183.
-
(2001)
Prog Neurobiol
, vol.64
, pp. 157-183
-
-
Marcaggi, P.1
Coles, J.A.2
-
17
-
-
0000104615
-
The differential toxicity of ammonium salts
-
Warren KS. The differential toxicity of ammonium salts. J Clin Invest 1958; 37: 497-501.
-
(1958)
J Clin Invest
, vol.37
, pp. 497-501
-
-
Warren, K.S.1
-
18
-
-
0031879678
-
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
-
21
-
-
19444362377
-
Urea cycle defects: Management and outcome
-
Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: Management and outcome. J Inherit Metab Dis 2005; 28: 407-414.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 407-414
-
-
Nassogne, M.C.1
Héron, B.2
Touati, G.3
Rabier, D.4
Saudubray, J.M.5
-
22
-
-
0021045693
-
Acute hyperammonemia in the young primate: Physiologic and neuropathologic correlates
-
Voorhies TM, Ehrlich ME, Duffy TE et al. Acute hyperammonemia in the young primate: Physiologic and neuropathologic correlates. Pediatr Res 1983; 17: 970-975.
-
(1983)
Pediatr Res
, vol.17
, pp. 970-975
-
-
Voorhies, T.M.1
Ehrlich, M.E.2
Duffy, T.E.3
-
23
-
-
0030864157
-
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: 171-182.
-
(1997)
Metab Brain Dis
, vol.12
, pp. 171-182
-
-
Michalak, A.1
Butterworth, R.F.2
-
24
-
-
69249220937
-
Metabolic and neurodegenerative diseases of childhood
-
In Love S, Louis DN, Ellison DW eds. 8th edn. London: Hodder Arnold
-
Harding BN, Surtees RAH. Metabolic and neurodegenerative diseases of childhood. In Love S, Louis DN, Ellison DW eds. Greenfield's Neuropathology. 8th edn. London: Hodder Arnold, 2008; 481-514.
-
(2008)
Greenfield's Neuropathology
, pp. 481-514
-
-
Harding, B.N.1
Surtees, R.A.H.2
-
25
-
-
33750608704
-
Glutamine: A Trojan horse in ammonia neurotoxicity
-
Albrecht J, Norenberg MD. Glutamine: A Trojan horse in ammonia neurotoxicity. Hepatology 2006; 44: 788-794.
-
(2006)
Hepatology
, vol.44
, pp. 788-794
-
-
Albrecht, J.1
Norenberg, M.D.2
-
26
-
-
50149083717
-
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
-
27
-
-
0036096070
-
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: 115-122.
-
(2002)
Neurochem Int
, vol.41
, pp. 115-122
-
-
Basile, A.S.1
-
28
-
-
85026150288
-
Increased aquaporin-4 expression in ammonia-treated cultured astrocytes
-
Rama Rao KV, Chen M, Simard JM, Norenberg MD. Increased aquaporin-4 expression in ammonia-treated cultured astrocytes. Neuroreport 2003; 14: 2379-2382.
-
(2003)
Neuroreport
, vol.14
, pp. 2379-2382
-
-
Rama Rao, K.V.1
Chen, M.2
Simard, J.M.3
Norenberg, M.D.4
-
29
-
-
0030466051
-
Cerebral circulation in liver failure: Ohm's law in force
-
Larsen FS. Cerebral circulation in liver failure: Ohm's law in force. Semin Liver Dis 1996; 16: 281-292.
-
(1996)
Semin Liver Dis
, vol.16
, pp. 281-292
-
-
Larsen, F.S.1
-
30
-
-
0016814420
-
The effect of ammonium, inorganic phosphate and potassium ions on the activity of phosphfructokinases from muscle and nervous tissues of vertebrates and invertebrates
-
Sugden P, Newsholme E. The effect of ammonium, inorganic phosphate and potassium ions on the activity of phosphfructokinases from muscle and nervous tissues of vertebrates and invertebrates. Biochem J 1975; 150: 113-122.
-
(1975)
Biochem J
, vol.150
, pp. 113-122
-
-
Sugden, P.1
Newsholme, E.2
-
31
-
-
0029927343
-
Metabolic coupling between glia and neurons
-
Tsacopoulos M, Magistretti PJ. Metabolic coupling between glia and neurons. J Neurosci 1996; 16: 877-885.
-
(1996)
J Neurosci
, vol.16
, pp. 877-885
-
-
Tsacopoulos, M.1
Magistretti, P.J.2
-
32
-
-
0005084930
-
Butterworth RF. Increased expression of the astrocytic/endothelial cell glucose transporter (and water channel) protein GLUT-1 in relation to brain glucose metabolism and edema in acute liver failure
-
Desjardins P, Michalak A, Therrien G, Chatauret N. Butterworth RF. Increased expression of the astrocytic/endothelial cell glucose transporter (and water channel) protein GLUT-1 in relation to brain glucose metabolism and edema in acute liver failure. Hepatology 2001; 34: 253.
-
(2001)
Hepatology
, vol.34
, pp. 253
-
-
Desjardins, P.1
Michalak, A.2
Therrien, G.3
Chatauret, N.4
Butterworth, R.F.5
-
33
-
-
0022972426
-
Brain α -ketoglutarate dehydrogenase complex: Kinetic properties, regional distribution and effects of inhibitors
-
Lai J, Cooper AJL. Brain α -ketoglutarate dehydrogenase complex: kinetic properties, regional distribution and effects of inhibitors. J Neurochem 1986; 47: 1376-1386.
-
(1986)
J Neurochem
, vol.47
, pp. 1376-1386
-
-
Lai, J.1
Cooper, A.J.L.2
-
34
-
-
69249222189
-
Disorders of the urea cycle and related enzymes
-
In: 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; 263-272.
-
(2006)
Inborn Metabolic Diseases
, pp. 263-272
-
-
Leonard, J.V.1
-
35
-
-
0025907503
-
Estimated frequency of urea cycle enzymopathies in Japan
-
Nagata N, Matsuda I, Oyanagi K. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 1991; 39: 228-229.
-
(1991)
Am J Med Genet
, vol.39
, pp. 228-229
-
-
Nagata, N.1
Matsuda, I.2
Oyanagi, K.3
-
36
-
-
0033631258
-
Incidence of inborn errors of metabolism in British Columbia 1969-1996
-
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia 1969-1996. Pediatrics 2000; 105: E10.
-
(2000)
Pediatrics
, vol.105
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
37
-
-
1642465541
-
Problems in the management of urea cycle disorders
-
Wilcken B. Problems in the management of urea cycle disorders. Mol Genet Metab 2004; 81: S86-S91.
-
(2004)
Mol Genet Metab
, vol.81
-
-
Wilcken, B.1
-
38
-
-
0031901847
-
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
-
Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998; 21 (Suppl. 1): 40-58.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 40-58
-
-
Tuchman, M.1
Morizono, H.2
Rajagopal, B.S.3
Plante, R.J.4
Allewell, N.M.5
-
39
-
-
33745686059
-
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
-
Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat 2006; 27: 626-632.
-
(2006)
Hum Mutat
, vol.27
, pp. 626-632
-
-
Yamaguchi, S.1
Brailey, L.L.2
Morizono, H.3
Bale, A.E.4
Tuchman, M.5
-
40
-
-
33947654819
-
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
-
Arranz JA, Riudur E, Marco-Marín C, Rubio V. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential. J Inherit Metab Dis 2007; 30: 217-226.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 217-226
-
-
Arranz, J.A.1
Riudur, E.2
Marco-Marín, C.3
Rubio, V.4
-
41
-
-
0036164461
-
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
-
42
-
-
2942630921
-
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies
-
Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP. Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies. J Inherit Metab Dis 2004; 27: 285-288.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 285-288
-
-
Rohininath, T.1
Costello, D.J.2
Lynch, T.3
Monavari, A.4
Tuchman, M.5
Treacy, E.P.6
-
43
-
-
0036461110
-
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
-
Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 2002; 86: 54-56.
-
(2002)
Arch Dis Child
, vol.86
, pp. 54-56
-
-
Nicolaides, P.1
Liebsch, D.2
Dale, N.3
Leonard, J.4
Surtees, R.5
-
44
-
-
0031646276
-
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: 389-397.
-
(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
-
45
-
-
0347949709
-
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: 80-86.
-
(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
-
46
-
-
0028070958
-
Rapidly fatal hyperammonaemic coma in adults-urea cycle enzyme deficiency
-
Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ. Rapidly fatal hyperammonaemic coma in adults-urea cycle enzyme deficiency. West J Med 1994; 161: 166-168.
-
(1994)
West J Med
, vol.161
, pp. 166-168
-
-
Wilson, B.E.1
Hobbs, W.N.2
Newmark, J.J.3
Farrow, S.J.4
-
47
-
-
0029052520
-
Hyperammonaemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency
-
Felig DM, Brusilow SW, Boyer JL. Hyperammonaemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 1995; 109: 282-284.
-
(1995)
Gastroenterology
, vol.109
, pp. 282-284
-
-
Felig, D.M.1
Brusilow, S.W.2
Boyer, J.L.3
-
48
-
-
0035078126
-
Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding
-
Triveda M, Zafar S, Spalding MJ, Jonnalagadda S. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. J Clin Gastroenterol 2001; 32: 340-343.
-
(2001)
J Clin Gastroenterol
, vol.32
, pp. 340-343
-
-
Triveda, M.1
Zafar, S.2
Spalding, M.J.3
Jonnalagadda, S.4
-
49
-
-
0026723977
-
Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy
-
Honeycutt D, Callahan K, Rutledge L, Evans B. Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy. Neurology 1992; 42: 666.
-
(1992)
Neurology
, vol.42
, pp. 666
-
-
Honeycutt, D.1
Callahan, K.2
Rutledge, L.3
Evans, B.4
-
50
-
-
0031666984
-
Hyperammonemia and coma developed by a woman treated with valproic acid for affective disorder
-
Eze E, Workman M, Donley B. Hyperammonemia and coma developed by a woman treated with valproic acid for affective disorder. Psychiatric Serv 1998; 49: 1358-1359.
-
(1998)
Psychiatric Serv
, vol.49
, pp. 1358-1359
-
-
Eze, E.1
Workman, M.2
Donley, B.3
-
51
-
-
0033599766
-
Clumsiness, confusion, coma, and valproate
-
Ellaway CJ, Bennetts B, Tuck RR, Wilcken B. Clumsiness, confusion, coma, and valproate. Lancet 1999; 353: 1408.
-
(1999)
Lancet
, vol.353
, pp. 1408
-
-
Ellaway, C.J.1
Bennetts, B.2
Tuck, R.R.3
Wilcken, B.4
-
53
-
-
0025296601
-
Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus
-
Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. New Engl J Med 1990; 322: 1652-1655.
-
(1990)
New Engl J Med
, vol.322
, pp. 1652-1655
-
-
Arn, P.H.1
Hauser, E.R.2
Thomas, G.H.3
Herman, G.4
Hess, D.5
Brusilow, S.W.6
-
54
-
-
0242352621
-
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: 1212-1215.
-
(2003)
Obstet Gynaecol
, vol.102
, pp. 1212-1215
-
-
Peterson, D.E.1
-
55
-
-
0031926212
-
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
-
Uchino T, Endo F, Matsudo I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 1998; 21 (Suppl. 1): 151-159.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 151-159
-
-
Uchino, T.1
Endo, F.2
Matsudo, I.3
-
56
-
-
34249803312
-
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
-
Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 2007; 356: 2282-2292.
-
(2007)
N Engl J Med
, vol.356
, pp. 2282-2292
-
-
Enns, G.M.1
Berry, S.A.2
Berry, G.T.3
Rhead, W.J.4
Brusilow, S.W.5
Hamosh, A.6
-
57
-
-
0014608809
-
Hereditary orotic aciduria: Long-term therapy with uridine and a trial of uracil
-
Becroft DMO, Phillips LI, Simmonds HA. Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. J Pediatr 1969; 75: 885-891.
-
(1969)
J Pediatr
, vol.75
, pp. 885-891
-
-
Becroft, D.M.O.1
Phillips, L.I.2
Simmonds, H.A.3
-
58
-
-
0028281752
-
The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: Studies in a healthy control population and females at risk
-
Sebesta I, Fairbanks LD, Davies PM, Simmonds HA, Leonard JV. The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: Studies in a healthy control population and females at risk. Clin Chim Acta 1994; 224: 45-54.
-
(1994)
Clin Chim Acta
, vol.224
, pp. 45-54
-
-
Sebesta, I.1
Fairbanks, L.D.2
Davies, P.M.3
Simmonds, H.A.4
Leonard, J.V.5
-
59
-
-
0035100541
-
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
-
Potter M, Hammond JW, Sim KG, Green AK, Wilcken B. Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. J Inherit Metab Dis 2001; 24: 5-14.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 5-14
-
-
Potter, M.1
Hammond, J.W.2
Sim, K.G.3
Green, A.K.4
Wilcken, B.5
-
61
-
-
2942568154
-
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: 179-186.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 179-186
-
-
Grünewald, S.1
Fairbanks, L.2
Genet, S.3
-
62
-
-
0034608941
-
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
-
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc Natl Acad Sci USA 2000; 97: 8021-8026.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 8021-8026
-
-
Lee, B.1
Yu, H.2
Jahoor, F.3
O'Brien, W.4
Beaudet, A.L.5
Reeds, P.6
-
63
-
-
0036140891
-
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
-
Scaglia F, Zheng Q, O'Brien WE et al. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics 2002; 109: 150-152.
-
(2002)
Pediatrics
, vol.109
, pp. 150-152
-
-
Scaglia, F.1
Zheng, Q.2
O'Brien, W.E.3
-
64
-
-
0029992537
-
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency
-
Yudkoff M, Daikhin Y, Nissim I et al. In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. J Clin Invest 1996; 98: 2167-2173.
-
(1996)
J Clin Invest
, vol.98
, pp. 2167-2173
-
-
Yudkoff, M.1
Daikhin, Y.2
Nissim, I.3
-
65
-
-
0035139898
-
Consensus statement from a conference for the management of patients with urea cycle disorders
-
The Urea Cycle Disorders Conference Group
-
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-S5.
-
(2001)
J Pediatr
, vol.138
, Issue.SUPPL.
-
-
-
66
-
-
37449022958
-
Nutritional management of patients with urea cycle disorders
-
Singh RH. Nutritional management of patients with urea cycle disorders. J Inherit Metab Dis 2007; 30: 880-887.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 880-887
-
-
Singh, R.H.1
-
67
-
-
0035145334
-
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-S55.
-
(2001)
J Pediatr
, vol.138
, Issue.SUPPL.
-
-
Batshaw, M.L.1
MacArthur, R.B.2
Tuchman, M.3
-
70
-
-
0036079322
-
Hemodialysis stimulates muscle and whole body protein loss and alters substrate oxidation
-
Ikizler TA, Pupim LB, Brouillette JR et al. Hemodialysis stimulates muscle and whole body protein loss and alters substrate oxidation. Am J Physiol Endocrinol Metab 2002; 282: E107-E116.
-
(2002)
Am J Physiol Endocrinol Metab
, vol.282
-
-
Ikizler, T.A.1
Pupim, L.B.2
Brouillette, J.R.3
-
71
-
-
0035145675
-
The nutritional management of urea cycle disorders
-
Leonard JV. The nutritional management of urea cycle disorders. J Pediatr 2001; 138 (Suppl.): S40-S45.
-
(2001)
J Pediatr
, vol.138
, Issue.SUPPL.
-
-
Leonard, J.V.1
-
72
-
-
0018597819
-
New pathways of nitrogen excretion in inborn errors of urea synthesis
-
Brusilow SW, Valle DL, Batshaw M. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 1979; 2: 452-454.
-
(1979)
Lancet
, vol.2
, pp. 452-454
-
-
Brusilow, S.W.1
Valle, D.L.2
Batshaw, M.3
-
73
-
-
0019319139
-
Amino acid acylation: A mechanism of nitrogen excretion in inborn errors of urea synthesis
-
Brusilow S, Tinker J, Batshaw ML. Amino acid acylation: A mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 1980; 207: 659-661.
-
(1980)
Science
, vol.207
, pp. 659-661
-
-
Brusilow, S.1
Tinker, J.2
Batshaw, M.L.3
-
74
-
-
0018342649
-
Arginine therapy of argininosuccinase deficiency
-
Brusilow SW, Batshaw ML. Arginine therapy of argininosuccinase deficiency. Lancet 1979; 1: 124-127.
-
(1979)
Lancet
, vol.1
, pp. 124-127
-
-
Brusilow, S.W.1
Batshaw, M.L.2
-
75
-
-
0024583295
-
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia
-
Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia. J Inherit Metab Dis 1989; 12: 72-79.
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 72-79
-
-
Barshop, B.A.1
Breuer, J.2
Holm, J.3
Leslie, J.4
Nyhan, W.L.5
-
76
-
-
0025313474
-
Phenylacetylglutamine and hippuric acid in uremic and healthy subjects
-
Zimmerman L, Jörnvall H, Bergström J. Phenylacetylglutamine and hippuric acid in uremic and healthy subjects. Nephron 1990; 55: 265-271.
-
(1990)
Nephron
, vol.55
, pp. 265-271
-
-
Zimmerman, L.1
Jörnvall, H.2
Bergström, J.3
-
77
-
-
1642498328
-
New secondary metabolites of phenylbutyrate in humans and rats
-
Kasumov T, Brunengraber LL, Comte B et al. New secondary metabolites of phenylbutyrate in humans and rats. Drug Metab Dispos 2004; 32: 10-19.
-
(2004)
Drug Metab Dispos
, vol.32
, pp. 10-19
-
-
Kasumov, T.1
Brunengraber, L.L.2
Comte, B.3
-
78
-
-
0028940022
-
Disposition of phenylbutyrate and its metabolites, phenylacetate and phenylacetylglutamine
-
Piscitelli SC, Thibault A, Figg WD et al. Disposition of phenylbutyrate and its metabolites, phenylacetate and phenylacetylglutamine. J Clin Pharmacol 1995; 35: 368-373.
-
(1995)
J Clin Pharmacol
, vol.35
, pp. 368-373
-
-
Piscitelli, S.C.1
Thibault, A.2
Figg, W.D.3
-
79
-
-
1642465546
-
Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and a continuous infusion to healthy adult volunteers
-
MacArthur RB, Altincatal A, Tuchman M. Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and a continuous infusion to healthy adult volunteers. Mol Genet Metab 2004; 81: S67-S73.
-
(2004)
Mol Genet Metab
, vol.81
-
-
MacArthur, R.B.1
Altincatal, A.2
Tuchman, M.3
-
80
-
-
0028269683
-
A phase 1 and pharmacokinetic study of intravenous phenylacetate in patients with cancer
-
Thibault A, Cooper MR, Figg WD et al. A phase 1 and pharmacokinetic study of intravenous phenylacetate in patients with cancer. Cancer Res 1994; 54: 1690-1694.
-
(1994)
Cancer Res
, vol.54
, pp. 1690-1694
-
-
Thibault, A.1
Cooper, M.R.2
Figg, W.D.3
-
81
-
-
0031903607
-
Liver transplantation for the treatment of urea cycle disorders
-
Whitington PF, Alonso EM, Boyle JT et al. Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis 1998; 21 (Suppl. 1): 112-118.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 112-118
-
-
Whitington, P.F.1
Alonso, E.M.2
Boyle, J.T.3
-
83
-
-
0035143585
-
Long-term correction of urea cycle disorders
-
Lee B, Goss J. Long-term correction of urea cycle disorders. J Pediatr 2001; 138 (Suppl): S62-S71.
-
(2001)
J Pediatr
, vol.138
, Issue.SUPPL.
-
-
Lee, B.1
Goss, J.2
-
84
-
-
1642506318
-
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-S78.
-
(2004)
Mol Genet Metab
, vol.81
-
-
Leonard, J.V.1
McKiernan, P.J.2
-
85
-
-
0036152063
-
Techniques for and outcome of liver transplantation in neonates and infants weighing up to 5 kg
-
Noujaim HM, Mayer DA, Buckles JA et al. Techniques for and outcome of liver transplantation in neonates and infants weighing up to 5 kg. J Pediatr Surg 2002; 37: 159-164.
-
(2002)
J Pediatr Surg
, vol.37
, pp. 159-164
-
-
Noujaim, H.M.1
Mayer, D.A.2
Buckles, J.A.3
-
86
-
-
0025739284
-
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies
-
Rabier D, Narcy C, Bardet J et al. Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies. J Inherit Metab Dis 1991; 14: 277-280.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 277-280
-
-
Rabier, D.1
Narcy, C.2
Bardet, J.3
-
87
-
-
33745084945
-
Hepatocyte transplantation for liver-based metabolic disorders
-
Dhawan A, Mitry RR, Hughes RD. Hepatocyte transplantation for liver-based metabolic disorders. J Inherit Metab Dis 2006; 29: 431-435.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 431-435
-
-
Dhawan, A.1
Mitry, R.R.2
Hughes, R.D.3
-
88
-
-
84878626023
-
Intrauterine benzoate-loading and postpartal hepatocyte transfusion: New therapeutic modalities in urea cycle defects (UCD): First experience
-
Das AM, Illsinger S, Luecke T et al. Intrauterine benzoate-loading and postpartal hepatocyte transfusion: New therapeutic modalities in urea cycle defects (UCD): First experience. J Inherit Metab Dis 2007; 30 (Suppl. 1): 83.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.SUPPL. 1
, pp. 83
-
-
Das, A.M.1
Illsinger, S.2
Luecke, T.3
-
89
-
-
84878634166
-
Liver cell transplantation (LCT) for carbamoylphosphate synthase 1 (CPS1) deficiency and citrullinaemia
-
Meyberg J, Hoerster F, Lindner M et al. Liver cell transplantation (LCT) for carbamoylphosphate synthase 1 (CPS1) deficiency and citrullinaemia. J Inherit Metab Dis 2007; 30 (Suppl. 1): 83.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.SUPPL. 1
, pp. 83
-
-
Meyberg, J.1
Hoerster, F.2
Lindner, M.3
-
90
-
-
0031903608
-
Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency
-
Raper SE, Wilson JM, Yudkoff M, Robinson MB, Ye X, Batshaw ML. Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998; 21 (Suppl. 1): 119-137.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 119-137
-
-
Raper, S.E.1
Wilson, J.M.2
Yudkoff, M.3
Robinson, M.B.4
Ye, X.5
Batshaw, M.L.6
-
91
-
-
0031927872
-
Evaluation of gene therapy for citrullinaemia using murine and bovine models
-
Patejunas G, Lee B, Dennis JA et al. Evaluation of gene therapy for citrullinaemia using murine and bovine models. J Inherit Metab Dis 1998; 21 (suppl 1): 138-150.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.SUPPL. 1
, pp. 138-150
-
-
Patejunas, G.1
Lee, B.2
Dennis, J.A.3
-
92
-
-
0033977721
-
Gene therapy-a loss of innocence
-
Editorial
-
Editorial. Gene therapy-a loss of innocence. Nat Med 2000; 6: 1.
-
(2000)
Nat Med
, vol.6
, pp. 1
-
-
-
93
-
-
0015442257
-
Ammonia intoxication in rats: Protection by N-carbamoyl-L-glutamate plus arginine
-
Kim S, Paik WK, Cohen PP. Ammonia intoxication in rats: Protection by N-carbamoyl-L-glutamate plus arginine. Proc Natl Acad Sci USA 1972; 69: 3530-3533.
-
(1972)
Proc Natl Acad Sci USA
, vol.69
, pp. 3530-3533
-
-
Kim, S.1
Paik, W.K.2
Cohen, P.P.3
-
94
-
-
0020392133
-
N-Acetylglutamate synthetase (NAGS) deficiency: Diagnosis, clinical observations and treatment
-
Bachmann C, Colombo JP, Jaggi K. N-Acetylglutamate synthetase (NAGS) deficiency: Diagnosis, clinical observations and treatment. Adv Exp Med Biol 1982; 153: 39-45.
-
(1982)
Adv Exp Med Biol
, vol.153
, pp. 39-45
-
-
Bachmann, C.1
Colombo, J.P.2
Jaggi, K.3
-
95
-
-
5144230046
-
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate
-
Caldovic L, Morizono H, Daikhin Y et al. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr 2004; 145: 552-554.
-
(2004)
J Pediatr
, vol.145
, pp. 552-554
-
-
Caldovic, L.1
Morizono, H.2
Daikhin, Y.3
-
96
-
-
0029878893
-
Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthase deficiency
-
Kuchler G, Rabier D, Poggi-Travert F et al. Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthase deficiency. J Inherit Metab Dis 1996; 19: 220-222.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 220-222
-
-
Kuchler, G.1
Rabier, D.2
Poggi-Travert, F.3
-
97
-
-
34548022622
-
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset
-
Nordenström A, Halldin M, Hallberg B, Alm J. A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset. J Inherit Metab Dis 2007; 30: 1-5.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 1-5
-
-
Nordenström, A.1
Halldin, M.2
Hallberg, B.3
Alm, J.4
-
98
-
-
0035822278
-
Emergency treatment of neonatal hyperammonaemic coma with mild systemic hypothermia
-
Whitelaw A, Bridges S, Leaf A, Evans D. Emergency treatment of neonatal hyperammonaemic coma with mild systemic hypothermia. Lancet 2001; 358: 36-38.
-
(2001)
Lancet
, vol.358
, pp. 36-38
-
-
Whitelaw, A.1
Bridges, S.2
Leaf, A.3
Evans, D.4
-
99
-
-
0026512056
-
Acute ammonia toxicity is mediated by NMDA type of glutamate receptors
-
Marcaida G, Felipo V, Hermenegildo C, Minana MD, Grisolia S. Acute ammonia toxicity is mediated by NMDA type of glutamate receptors. FEBS Lett 1992; 296: 67-68.
-
(1992)
FEBS Lett
, vol.296
, pp. 67-68
-
-
Marcaida, G.1
Felipo, V.2
Hermenegildo, C.3
Minana, M.D.4
Grisolia, S.5
-
100
-
-
0030990406
-
Memantine, a noncompetitive NMDA receptor antagonist improves hyperammonemia-induced encephalopathy and acute hepatic encephalopathy in rats
-
Vogels BA, Maas MA, Daalhuisen J, Quack G, Chamuleau RA. Memantine, a noncompetitive NMDA receptor antagonist improves hyperammonemia-induced encephalopathy and acute hepatic encephalopathy in rats. Hepatology 1997; 25: 820-827.
-
(1997)
Hepatology
, vol.25
, pp. 820-827
-
-
Vogels, B.A.1
Maas, M.A.2
Daalhuisen, J.3
Quack, G.4
Chamuleau, R.A.5
-
101
-
-
33645095476
-
Paradigm shift in neuroprotection by NMDA receptor blockade: Memantine and beyond
-
Lipton SA. Paradigm shift in neuroprotection by NMDA receptor blockade: memantine and beyond. Nat Rev Drug Discov 2006; 5: 160-170.
-
(2006)
Nat Rev Drug Discov
, vol.5
, pp. 160-170
-
-
Lipton, S.A.1
-
102
-
-
0034920693
-
Indomethacin prevents the development of experimental ammonia-induced brain edema in rats after portacaval anastomosis
-
Chung C, Gottstein J, Blei AT. Indomethacin prevents the development of experimental ammonia-induced brain edema in rats after portacaval anastomosis. Hepatology 2001; 34: 249-254.
-
(2001)
Hepatology
, vol.34
, pp. 249-254
-
-
Chung, C.1
Gottstein, J.2
Blei, A.T.3
-
103
-
-
0031003989
-
Therapeutic efficacy of L-ornithine-L-aspartate infusions in patients with cirrhosis and hepatic encephalopathy: Results of a placebo-controlled, double-blind study
-
Kircheis G, Nilius R, Held C et al. Therapeutic efficacy of L-ornithine-L-aspartate infusions in patients with cirrhosis and hepatic encephalopathy: Results of a placebo-controlled, double-blind study. Hepatology 1997; 25: 1351-1360.
-
(1997)
Hepatology
, vol.25
, pp. 1351-1360
-
-
Kircheis, G.1
Nilius, R.2
Held, C.3
-
104
-
-
0031852152
-
L-Ornithine-L-aspartate in experimental portal-systemic encephalopathy: Therapeutic efficacy and mechanism of action
-
Rose C, Michalak A, Pannunzio P et al. L-Ornithine-L-aspartate in experimental portal-systemic encephalopathy: Therapeutic efficacy and mechanism of action. Metab Brain Dis 1998; 13: 147-157.
-
(1998)
Metab Brain Dis
, vol.13
, pp. 147-157
-
-
Rose, C.1
Michalak, A.2
Pannunzio, P.3
-
105
-
-
0027952648
-
Flumazenil in cirrhotic patients with hepatic coma: A randomized double-blind placebo-controlled cross-over trial
-
Pomier-Layrargues G, Giguère J-F, Lavoie J et al. Flumazenil in cirrhotic patients with hepatic coma: A randomized double-blind placebo-controlled cross-over trial. Hepatology 1994; 19: 32-37.
-
(1994)
Hepatology
, vol.19
, pp. 32-37
-
-
Pomier-Layrargues, G.1
Giguère, J.-F.2
Lavoie, J.3
-
106
-
-
2642557350
-
Genetic approach to prenatal diagnosis in urea cycle defects
-
Häberle J, Koch HG. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn 2004; 24: 378-383.
-
(2004)
Prenat Diagn
, vol.24
, pp. 378-383
-
-
Häberle, J.1
Koch, H.G.2
-
107
-
-
1642506322
-
Ammonia toxicity to the brain and creatine
-
Bachmann C, Braissant O, Villard A-M, Boulat O, Henry H. Ammonia toxicity to the brain and creatine. Mol Genet Metab 2004; 81: S52-S57.
-
(2004)
Mol Genet Metab
, vol.81
-
-
Bachmann, C.1
Braissant, O.2
Villard, A.-M.3
Boulat, O.4
Henry, H.5
-
108
-
-
0029810139
-
Neuroactive amino acids and glutamate (NMDA) receptors in frontal cortex of rats with experimental acute liver failure
-
Michalak A, Rose C, Butterworth J, Butterworth RF. Neuroactive amino acids and glutamate (NMDA) receptors in frontal cortex of rats with experimental acute liver failure. Hepatology 1996; 24: 908-913.
-
(1996)
Hepatology
, vol.24
, pp. 908-913
-
-
Michalak, A.1
Rose, C.2
Butterworth, J.3
Butterworth, R.F.4
-
109
-
-
0028892620
-
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse
-
Robinson MB, Hopkins K, Batshaw ML, McLaughlin BA, Heyes MP, Oster-Granite ML. Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse. Brain Res Dev Brain Res 1995; 90: 35-44.
-
(1995)
Brain Res Dev Brain Res
, vol.90
, pp. 35-44
-
-
Robinson, M.B.1
Hopkins, K.2
Batshaw, M.L.3
McLaughlin, B.A.4
Heyes, M.P.5
Oster-Granite, M.L.6
-
111
-
-
0032430914
-
Chronic hyperammonemia impairs the glutamate-nitric oxide-cyclic GMP pathway in cerebellar neurons in culture and in the rat in vivo
-
Hermenegildo C, Montoliu C, Llansola M et al. Chronic hyperammonemia impairs the glutamate-nitric oxide-cyclic GMP pathway in cerebellar neurons in culture and in the rat in vivo. Eur J Neurosci 1998; 10: 3201-3209.
-
(1998)
Eur J Neurosci
, vol.10
, pp. 3201-3209
-
-
Hermenegildo, C.1
Montoliu, C.2
Llansola, M.3
-
112
-
-
0029562295
-
Acute liver failure and hyperammonaemia increase peripheral-type benzodiazepine receptor binding and pregnenolone synthesis in mouse brain
-
Itzhak Y, Roig-Cantisano A, Dombra RS, Norenberg MD. Acute liver failure and hyperammonaemia increase peripheral-type benzodiazepine receptor binding and pregnenolone synthesis in mouse brain. Brain Res 1995; 705: 345-348.
-
(1995)
Brain Res
, vol.705
, pp. 345-348
-
-
Itzhak, Y.1
Roig-Cantisano, A.2
Dombra, R.S.3
Norenberg, M.D.4
-
113
-
-
0023039337
-
Behavioral and neurotransmitter changes in the urease-infused rat: A model of congenital hyperammonemia
-
Batshaw ML, Hyman SL, Mellits ED, Thomas GH, DeMuro R, Coyle JT. Behavioral and neurotransmitter changes in the urease-infused rat: A model of congenital hyperammonemia. Pediatr Res 1986; 20: 1310-1315.
-
(1986)
Pediatr Res
, vol.20
, pp. 1310-1315
-
-
Batshaw, M.L.1
Hyman, S.L.2
Mellits, E.D.3
Thomas, G.H.4
DeMuro, R.5
Coyle, J.T.6
-
115
-
-
12144289341
-
Adult-onset type 11 citrullinaemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
-
Saheki T, Kobayashi K, Iijima M et al. Adult-onset type 11 citrullinaemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004; 81 (Suppl. 1): S20-S26.
-
(2004)
Mol Genet Metab
, vol.81
, Issue.SUPPL. 1
-
-
Saheki, T.1
Kobayashi, K.2
Iijima, M.3
-
116
-
-
27644536273
-
Congenital glutamine deficiency with glutamine synthetase mutations
-
Häberle J, Gorg B, Rutsch F et al. Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 2005; 353: 1926-1933.
-
(2005)
N Engl J Med
, vol.353
, pp. 1926-1933
-
-
Häberle, J.1
Gorg, B.2
Rutsch, F.3
-
117
-
-
0022544133
-
Waste nitrogen excretion via amino acid acylation: Benzoate and phenylacetate in lysinuric protein intolerance
-
Simell O, Sipila I, Rajantie J, Valle DL, Brusilow SW. Waste nitrogen excretion via amino acid acylation: Benzoate and phenylacetate in lysinuric protein intolerance. Pediatr Res 1986; 20: 1117-1121.
-
(1986)
Pediatr Res
, vol.20
, pp. 1117-1121
-
-
Simell, O.1
Sipila, I.2
Rajantie, J.3
Valle, D.L.4
Brusilow, S.W.5
-
118
-
-
0020057470
-
Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion
-
Batshaw ML, Brusilow SW, Waber L et al. Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med 1982; 306: 1387-1392.
-
(1982)
N Engl J Med
, vol.306
, pp. 1387-1392
-
-
Batshaw, M.L.1
Brusilow, S.W.2
Waber, L.3
-
119
-
-
0034076850
-
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: 129-136.
-
(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
|