-
1
-
-
0027074530
-
The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency
-
1 Tuchman M. The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med 1992 ; 120: 836–850. MEDLINE
-
(1992)
J Lab Clin Med
, vol.120
, pp. 836-850
-
-
Tuchman, M1
-
2
-
-
0025635627
-
Prenatal exclusion of ornithine transcarbamylase deficiency (OTC) by using RFLP analysis
-
2 Liechti S, Dionisi Vici C, Bachman C, et al. Prenatal exclusion of ornithine transcarbamylase deficiency (OTC) by using RFLP analysis. J Inherit Metab Dis 1990 ; 13: 888–890. MEDLINE
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 888-890
-
-
Liechti, S1
Dionisi Vici, C2
Bachman, C3
-
3
-
-
0026012327
-
Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency
-
3 Liechti S, Dionisi C, Bachman C, et al. Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency. Enzyme 1990 ; 45: 81–91.
-
(1990)
Enzyme
, vol.45
, pp. 81-91
-
-
Liechti, S1
Dionisi, C2
Bachman, C3
-
4
-
-
0023858146
-
Structure of the human ornithine transcarbamylase gene
-
4 Hata A, Tsuzuki T, Shimada K, et al. Structure of the human ornithine transcarbamylase gene. J Biochem 1988 ; 103: 302–308. MEDLINE
-
(1988)
J Biochem
, vol.103
, pp. 302-308
-
-
Hata, A1
Tsuzuki, T2
Shimada, K3
-
5
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis: Outcome of urea‐cycle enzymopathies
-
5 Msall M, Batshaw ML, Suss R, et al. Neurologic outcome in children with inborn errors of urea synthesis: Outcome of urea‐cycle enzymopathies. N Engl J Med 1984 ; 310: 1500–1505. MEDLINE
-
(1984)
N Engl J Med
, vol.310
, pp. 1500-1505
-
-
Msall, M1
Batshaw, ML2
Suss, R3
-
6
-
-
0025019328
-
Carrier detection in a partially dominant X‐linked disease: Ornithine transcarbamylase deficiency
-
6 Pelet A, Rotig A, Bonaiti Pellie C, et al. Carrier detection in a partially dominant X‐linked disease: Ornithine transcarbamylase deficiency. Human Genet 1990 ; 84: 167–171.
-
(1990)
Human Genet
, vol.84
, pp. 167-171
-
-
Pelet, A1
Rotig, A2
Bonaiti Pellie, C3
-
7
-
-
0022642207
-
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency
-
7 Batshaw ML, Msall M, Beaudet AL, Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 1986 ; 108: 236–241. MEDLINE
-
(1986)
J Pediatr
, vol.108
, pp. 236-241
-
-
Batshaw, ML1
Msall, M2
Beaudet, AL3
Trojak, J4
-
8
-
-
0025786169
-
Prospective treatment of urea cycle disorders
-
8 Maestri NE, Hauser ER, Bartholomew D, et al. Prospective treatment of urea cycle disorders. J Pediatr 1991 ; 19: 923–928.
-
(1991)
J Pediatr
, vol.19
, pp. 923-928
-
-
Maestri, NE1
Hauser, ER2
Bartholomew, D3
-
9
-
-
0029786498
-
Long‐term treatment of girls with ornithine transcarbamylase deficiency
-
9 Maestri NE, Brusilow SW, Clissold DB, Basset SS. Long‐term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med 1996 ; 335: 855–859. MEDLINE
-
(1996)
N Engl J Med
, vol.335
, pp. 855-859
-
-
Maestri, NE1
Brusilow, SW2
Clissold, DB3
Basset, SS4
-
10
-
-
0031035289
-
Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous patient
-
10 Heringlake S, Boker K, Manns M. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous patient. Digestion 1997 ; 58: 83–86. MEDLINE
-
(1997)
Digestion
, vol.58
, pp. 83-86
-
-
Heringlake, S1
Boker, K2
Manns, M3
-
11
-
-
0024425235
-
Liver transplantation for ornithine transcarbamylase deficiency in a girl
-
11 Largilliere C, Houssin D, Gottand F, et al. Liver transplantation for ornithine transcarbamylase deficiency in a girl. J Pediatr 1989 ; 115: 415–417. MEDLINE
-
(1989)
J Pediatr
, vol.115
, pp. 415-417
-
-
Largilliere, C1
Houssin, D2
Gottand, F3
-
12
-
-
0022619794
-
Ornithine transcarbamylase deficiency: Neuropathologic changes acquired in utero
-
12 Filloux F, Townsend JJ, Leonard C. Ornithine transcarbamylase deficiency: Neuropathologic changes acquired in utero. J Pediatr 1986 ; 108: 942–952. MEDLINE
-
(1986)
J Pediatr
, vol.108
, pp. 942-952
-
-
Filloux, F1
Townsend, JJ2
Leonard, C3
-
13
-
-
0026638692
-
Orninthine carbamoyl transferase deficiency: Findings, models, and problems
-
13 Bachman C. Orninthine carbamoyl transferase deficiency: Findings, models, and problems. J Inherit Metab Dis 1992 ; 15: 578–591. MEDLINE
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 578-591
-
-
Bachman, C1
-
14
-
-
0028344586
-
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: Reports of three cases
-
14 Jan D, Poggi F, Jouvet P, et al. Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: Reports of three cases. Transplant Proc 1994 ; 26: 188. MEDLINE
-
(1994)
Transplant Proc
, vol.26
, pp. 188
-
-
Jan, D1
Poggi, F2
Jouvet, P3
-
15
-
-
0021174020
-
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis
-
15 Brusilow SW, Danney M, Waber LJ, et al. Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N Engl J Med 1984 ; 310: 1630–1634. MEDLINE
-
(1984)
N Engl J Med
, vol.310
, pp. 1630-1634
-
-
Brusilow, SW1
Danney, M2
Waber, LJ3
-
16
-
-
0024475380
-
Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency
-
16 Tuchman M. Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency. N Engl J Med 1989 ; 320: 1498–1499. MEDLINE
-
(1989)
N Engl J Med
, vol.320
, pp. 1498-1499
-
-
Tuchman, M1
-
17
-
-
0026597705
-
Orthotopic liver transplantation for urea cycle enzyme deficiency
-
17 Todo S, Starzl TE, Tzakis AG, et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 1992 ; 15: 419–422. MEDLINE
-
(1992)
Hepatology
, vol.15
, pp. 419-422
-
-
Todo, S1
Starzl, TE2
Tzakis, AG3
-
18
-
-
0025004380
-
Application of reduced‐size liver transplants as split grafts, auxiliary orthotopic grafts, and living‐related segmental transplants
-
18 Broelsch CE, Emond JC, Whitington PF, et al. Application of reduced‐size liver transplants as split grafts, auxiliary orthotopic grafts, and living‐related segmental transplants. Ann Surg 1990 ; 212: 368–377. MEDLINE
-
(1990)
Ann Surg
, vol.212
, pp. 368-377
-
-
Broelsch, CE1
Emond, JC2
Whitington, PF3
-
19
-
-
0017816382
-
Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency
-
19 Glasgow A, Kraegel J, Schulman J. Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency. Pediatrics 1978 ; 62: 30–37. MEDLINE
-
(1978)
Pediatrics
, vol.62
, pp. 30-37
-
-
Glasgow, A1
Kraegel, J2
Schulman, J3
-
20
-
-
0029743996
-
Histological improvement in native liver after auxiliary partial liver transplantation for ornithine transcarbamylase deficiency
-
20 Inui A, Fujisawa T, Komatsu H, et al. Histological improvement in native liver after auxiliary partial liver transplantation for ornithine transcarbamylase deficiency. Lancet 1996 ; 348: 751–752. MEDLINE
-
(1996)
Lancet
, vol.348
, pp. 751-752
-
-
Inui, A1
Fujisawa, T2
Komatsu, H3
-
21
-
-
0029932252
-
Auxillary partial orthotopic liver transplantation from a living related donor: A report of two cases
-
21 Egawa H, Tanaka K, Inomata Y, et al. Auxillary partial orthotopic liver transplantation from a living related donor: A report of two cases. Transplant Proc 1996 ; 28: 1071–1072. MEDLINE
-
(1996)
Transplant Proc
, vol.28
, pp. 1071-1072
-
-
Egawa, H1
Tanaka, K2
Inomata, Y3
|