-
1
-
-
0001564260
-
Urea enzymes
-
Scriver C.R. Beaudet A.L. Sly W.S. Valle D. eds. 8th ed. New York, NY: McGraw-Hill.
-
Brusilow SW, Horwich AL,. Urea enzymes. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Molecular and Metabolic Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001: 1909-1965.
-
(2001)
The Molecular and Metabolic Bases of Inherited Disease
, pp. 1909-1965
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
2
-
-
77950338275
-
Current concepts in the pathogenesis of urea cycle disorders
-
Braissant O,. Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab 2010; 100 (suppl 1): S3-S12.
-
(2010)
Mol Genet Metab
, vol.100
, Issue.SUPPL 1
-
-
Braissant, O.1
-
3
-
-
69249202553
-
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: 823-835.
-
(2009)
Diabetes Obes Metab
, vol.11
, pp. 823-835
-
-
Walker, V.1
-
4
-
-
77957823635
-
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: 885-891.
-
(2010)
Am J Med
, vol.123
, pp. 885-891
-
-
Labuzetta, J.N.1
Yao, J.Z.2
Bourque, D.L.3
Zivin, J.4
-
5
-
-
78649321933
-
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency
-
Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J,. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency. Mol Genet Metab 2010; 101: 311-323.
-
(2010)
Mol Genet Metab
, vol.101
, pp. 311-323
-
-
Martínez, A.I.1
Pérez-Arellano, I.2
Pekkala, S.3
Barcelona, B.4
Cervera, J.5
-
6
-
-
77954106335
-
Understanding carbamoyl-phosphate synthetase i (CPS1) deficiency by using expression studies and structure-based analysis
-
Pekkala S, Martínez AI, Barcelona B, Yefimenko I, Finckh U, Rubio V, Cervera J,. Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis. Hum Mutat 2010; 31: 801-808.
-
(2010)
Hum Mutat
, vol.31
, pp. 801-808
-
-
Pekkala, S.1
Martínez, A.I.2
Barcelona, B.3
Yefimenko, I.4
Finckh, U.5
Rubio, V.6
Cervera, J.7
-
7
-
-
0025935047
-
Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: Molecular analysis of hyperammonemia
-
Haraguchi Y, Uchino T, Takiguchi M, Endo F, Mori M, Matsuda I,. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia. Gene 1991; 107: 335-340.
-
(1991)
Gene
, vol.107
, pp. 335-340
-
-
Haraguchi, Y.1
Uchino, T.2
Takiguchi, M.3
Endo, F.4
Mori, M.5
Matsuda, I.6
-
8
-
-
0037971753
-
Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene
-
DOI 10.1016/S0378-1119(03)00528-6
-
Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, et al. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene 2003; 311: 51-57. (Pubitemid 36830801)
-
(2003)
Gene
, vol.311
, Issue.1-2
, pp. 51-57
-
-
Summar, M.L.1
Hall, L.D.2
Eeds, A.M.3
Hutcheson, H.B.4
Kuo, A.N.5
Willis, A.S.6
Rubio, V.7
Arvin, M.K.8
Schofield, J.P.9
Dawson, E.P.10
-
9
-
-
0026806468
-
Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma
-
Verbiest HB, Straver JS, Colombo JP, van der Vijver JC, van Woerkom TC,. Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. Acta Neurol Scand 1992; 86: 275-279.
-
(1992)
Acta Neurol Scand
, vol.86
, pp. 275-279
-
-
Verbiest, H.B.1
Straver, J.S.2
Colombo, J.P.3
Van Der Vijver, J.C.4
Van Woerkom, T.C.5
-
10
-
-
0027526568
-
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency
-
Lo WD, Sloan HR, Sotos JF, Klinger RJ,. Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. Am J Dis Child 1993; 147: 267-269. (Pubitemid 23077281)
-
(1993)
American Journal of Diseases of Children
, vol.147
, Issue.3
, pp. 267-269
-
-
Lo, W.D.1
Sloan, H.R.2
Sotos, J.F.3
Klinger, R.J.4
-
11
-
-
0028158840
-
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency
-
Wong LJ, Craigen WJ, O'Brien WE,. Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med 1994; 120: 216-217. (Pubitemid 24038806)
-
(1994)
Annals of Internal Medicine
, vol.120
, Issue.3
, pp. 216-217
-
-
Wong, L.-J.C.1
Craigen, W.J.2
O'Brien, W.E.3
-
12
-
-
33746021115
-
Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old
-
DOI 10.1016/j.jocn.2005.07.014, PII S0967586806001743
-
Eather G, Coman D, Lander C, McGill J,. Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old. J Clin Neurosci 2006; 13: 702-706. (Pubitemid 44066806)
-
(2006)
Journal of Clinical Neuroscience
, vol.13
, Issue.6
, pp. 702-706
-
-
Eather, G.1
Coman, D.2
Lander, C.3
McGill, J.4
-
13
-
-
77953911677
-
Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia
-
Kotani Y, Shiota M, Umemoto M, Tsuritani M, Hoshiai H,. Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia. Am J Obstet Gynecol 2010; 203: e10-e11.
-
(2010)
Am J Obstet Gynecol
, vol.203
-
-
Kotani, Y.1
Shiota, M.2
Umemoto, M.3
Tsuritani, M.4
Hoshiai, H.5
-
14
-
-
0035070667
-
Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy
-
DOI 10.1016/S0887-8994(00)00259-9, PII S0887899400002599
-
Takeoka M, Soman TB, Shih VE, Caviness VS Jr, Krishnamoorthy KS,. Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy. Pediatr Neurol 2001; 24: 193-199. (Pubitemid 32294267)
-
(2001)
Pediatric Neurology
, vol.24
, Issue.3
, pp. 193-199
-
-
Takeoka, M.1
Soman, T.B.2
Shih, V.E.3
Caviness Jr., V.S.4
Krishnamoorthy, K.S.5
-
15
-
-
82455195839
-
-
British Inherited Metabolic Disease Group. Emergency guidelines. Accessed August.
-
British Inherited Metabolic Disease Group. Emergency guidelines. Accessed August 2011.
-
(2011)
-
-
-
16
-
-
34249803312
-
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
-
DOI 10.1056/NEJMoa066596
-
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. (Pubitemid 46849158)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.22
, 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
-
17
-
-
1642506318
-
The role of liver transplantation in urea cycle disorders
-
DOI 10.1016/j.ymgme.2003.08.027, PII S1096719204000174
-
Leonard JV, McKiernan PJ,. The role of liver transplantation in urea cycle disorders. Mol Genet Metab 2004; 81 (suppl 1): S74-S78. (Pubitemid 38402239)
-
(2004)
Molecular Genetics and Metabolism
, vol.81
, Issue.SUPPL.
-
-
Leonard, J.V.1
McKiernan, P.J.2
-
18
-
-
30444448372
-
Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide english literature and 13 cases at Kyoto University
-
DOI 10.1002/lt.20587
-
Morioka D, Kasahara M, Takada Y, Shirouzu Y, Taira K, Sakamoto S, et al. Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. Liver Transpl 2005; 11: 1332-1342. (Pubitemid 43071582)
-
(2005)
Liver Transplantation
, vol.11
, Issue.11
, pp. 1332-1342
-
-
Morioka, D.1
Kasahara, M.2
Takada, Y.3
Shirouzu, Y.4
Taira, K.5
Sakamoto, S.6
Uryuhara, K.7
Egawa, H.8
Shimada, H.9
Tanaka, K.10
-
19
-
-
77953282998
-
Liver transplantation for inherited metabolic disorders of the liver
-
Moini M, Mistry P, Schilsky ML,. Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Transplant 2010; 15: 269-276.
-
(2010)
Curr Opin Organ Transplant
, vol.15
, pp. 269-276
-
-
Moini, M.1
Mistry, P.2
Schilsky, M.L.3
-
20
-
-
77950340268
-
Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
-
Meyburg J, Hoffmann GF,. Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects. Mol Genet Metab 2010; 100 (suppl 1): S77-S83.
-
(2010)
Mol Genet Metab
, vol.100
, Issue.SUPPL 1
-
-
Meyburg, J.1
Hoffmann, G.F.2
-
21
-
-
78649874056
-
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency
-
Kasahara M, Sakamoto S, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, et al. Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency. Pediatr Transplant 2010; 14: 1036-1040.
-
(2010)
Pediatr Transplant
, vol.14
, pp. 1036-1040
-
-
Kasahara, M.1
Sakamoto, S.2
Shigeta, T.3
Fukuda, A.4
Kosaki, R.5
Nakazawa, A.6
|