-
1
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, and therapy
-
Brusilow SW, Maestri NE,. Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 1996: 43: 127.
-
(1996)
Adv Pediatr
, vol.43
, pp. 127
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
3
-
-
77950338976
-
Nitrogen sparing therapy revisited 2009
-
Enns GM,. Nitrogen sparing therapy revisited 2009. Mol Genet Metab 2010: 100 (Suppl 1): S65.
-
(2010)
Mol Genet Metab
, vol.100
, Issue.SUPPL. 1
-
-
Enns, G.M.1
-
4
-
-
0036461110
-
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
-
DOI 10.1136/adc.86.1.54
-
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. (Pubitemid 36307632)
-
(2002)
Archives of Disease in Childhood
, vol.86
, Issue.1
, pp. 54-56
-
-
Nicolaides, P.1
Liebsch, D.2
Dale, N.3
Leonard, J.4
Surtees, R.5
-
5
-
-
0031926212
-
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
-
Uchino T, Endo F, Matsuda 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
Matsuda, I.3
-
6
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies
-
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: 210: 1500.
-
(1984)
N Engl J Med
, vol.210
, pp. 1500
-
-
Msall, M.1
Batshaw, M.L.2
Suss, R.3
-
7
-
-
0035142619
-
Current strategies for the management of neonatal urea cycle disorders
-
Summar M,. Current strategies for the management of neonatal urea cycle disorders. J Pediatr 2001: 138: S30.
-
(2001)
J Pediatr
, vol.138
-
-
Summar, M.1
-
8
-
-
0020057470
-
Treatment of inborn errors of urea synthesis: Activation of alternative pathways of waste nitrogen synthesis and excretion
-
Batshaw ML, Brusilow S, 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.
-
(1982)
N Engl J Med
, vol.306
, pp. 1387
-
-
Batshaw, M.L.1
Brusilow, S.2
Waber, L.3
-
9
-
-
76449120190
-
Long-term outcome following pediatric liver transplantation for metabolic disorders
-
Stevenson T, Millan MT, Wayman K, et al. Long-term outcome following pediatric liver transplantation for metabolic disorders. Pediatr Transplant 2010: 14: 268-275.
-
(2010)
Pediatr Transplant
, vol.14
, pp. 268-275
-
-
Stevenson, T.1
Millan, M.T.2
Wayman, K.3
-
10
-
-
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, 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
-
11
-
-
18544363433
-
Long-term survival after liver transplantation in children with metabolic disorders
-
DOI 10.1034/j.1399-3046.2002.02009.x
-
Kayler LK, Merion RM, Lee S, et al. Long-term survival after liver transplantation in children with metabolic disorders. Pediatr Transplant 2002: 6: 295-300. (Pubitemid 35000969)
-
(2002)
Pediatric Transplantation
, vol.6
, Issue.4
, pp. 295-300
-
-
Kayler, L.K.1
Merion, R.M.2
Lee, S.3
Sung, R.S.4
Punch, J.D.5
Rudich, S.M.6
Turcotte, J.G.7
Campbell Jr., D.A.8
Holmes, R.9
Magee, J.C.10
-
12
-
-
0029012513
-
Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy
-
Hasegawa T, Tzakis AG, Todo S, et al. Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg 1995: 30: 863-865.
-
(1995)
J Pediatr Surg
, vol.30
, pp. 863-865
-
-
Hasegawa, T.1
Tzakis, A.G.2
Todo, S.3
-
13
-
-
33645659541
-
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)
-
Robberecht E, Maesen S, Jonckheere A, Van Biervliet S, et al. Successful liver transplantation for argininosuccinate lyase deficiency (ASLD). J Inherit Metab Dis 2006: 29: 184-185.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 184-185
-
-
Robberecht, E.1
Maesen, S.2
Jonckheere, A.3
Van Biervliet, S.4
-
14
-
-
16644386782
-
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency
-
DOI 10.1542/peds.2004-0198
-
McBride KL, Miller G, Carter S, Karpen S, et al. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset ornithine transcarbamylase deficiency. Pediatrics 2004: 114: e523-e526. (Pubitemid 41529749)
-
(2004)
Pediatrics
, vol.114
, Issue.4
-
-
McBride, K.L.1
Miller, G.2
Carter, S.3
Karpen, S.4
Goss, J.5
Lee, B.6
-
15
-
-
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
-
16
-
-
0032732091
-
Liver transplantation in urea cycle disorders
-
Saudubray JM, Touati G, Delonlay P, et al. Liver transplantation in urea cycle disorders. Eur J Pediatr 1999: 158 (Suppl 2): S55-S59.
-
(1999)
Eur J Pediatr
, vol.158
, Issue.SUPPL. 2
-
-
Saudubray, J.M.1
Touati, G.2
Delonlay, P.3
-
17
-
-
33644803431
-
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
-
Morioka D, Kasahara M, Takada Y, et al. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am J Ther 2005: 5: 2754-2763.
-
(2005)
Am J Ther
, vol.5
, pp. 2754-2763
-
-
Morioka, D.1
Kasahara, M.2
Takada, Y.3
-
18
-
-
17744370497
-
Preliminary results of a liver allocation plan using a continuous medical severity score that de-emphasizes waiting time
-
DOI 10.1053/jlts.2001.22180
-
Freeman RB, Rohrer RJ, et al. Preliminary results of a liver allocation plan using a continuous medical severity score that de-emphasizes waiting time. Liver Transpl 2001: 7: 173-178. (Pubitemid 32243810)
-
(2001)
Liver Transplantation
, vol.7
, Issue.3
, pp. 173-178
-
-
Freeman, R.B.1
Rohrer, R.J.2
Katz, E.3
Lewis, W.D.4
Jenkins, R.5
Cosimi, A.B.6
Delmonico, F.7
Friedman, A.8
Lorber, M.9
O'Connor, K.10
Bradley, J.11
-
19
-
-
40749097542
-
Pediatric transplantation in the United States, 1997-2006
-
DOI 10.1111/j.1600-6143.2008.02172.x
-
Magee JC, Krishnan SM, Benfield MR, et al. Pediatric transplantation in the United States, 1997-2006. Am J Ther 2008: 935-945. (Pubitemid 351395241)
-
(2008)
American Journal of Transplantation
, vol.8
, Issue.4 PART 2
, pp. 935-945
-
-
Magee, J.C.1
Krishnan, S.M.2
Benfield, M.R.3
Hsu, D.T.4
Shneider, B.L.5
-
24
-
-
0025812443
-
Treatment of inherited metabolic disorders by liver transplantation
-
Burdelski M, Rodeck B, Latta A, et al. Treatment of inherited metabolic disorders by liver transplantation. J Inherit Metab Dis 1991: 14: 604-618.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 604-618
-
-
Burdelski, M.1
Rodeck, B.2
Latta, A.3
-
25
-
-
0031687686
-
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency
-
Busuttil AA, Goss JA, Seu P, et al. The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency. Liver Transpl Surg 1998: 4: 350-354. (Pubitemid 28413235)
-
(1998)
Liver Transplantation and Surgery
, vol.4
, Issue.5
, pp. 350-354
-
-
Busuttil, A.A.1
Goss, J.A.2
Seu, P.3
Dulkanchainun, T.S.4
Yanni, G.S.5
McDiarmid, S.V.6
Busuttil, R.W.7
-
26
-
-
84874452209
-
Longterm outcome of patients with urea cycle disorders and the question of neonatal screening
-
Bachman C,. Longterm outcome of patients with urea cycle disorders and the question of neonatal screening. Pediatr Transplant 2002: 6: 361.
-
(2002)
Pediatr Transplant
, vol.6
, pp. 361
-
-
Bachman, C.1
-
27
-
-
0037944015
-
Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation
-
Bachman C,. Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr 2003: 162: 410-416.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 410-416
-
-
Bachman, C.1
-
28
-
-
1642547106
-
Cognitive outcomes in urea cycle disorders
-
Gropman AL, Batshaw ML,. Cognitive outcomes in urea cycle disorders. Mol Genet Metab 2004: 81 (Suppl 1): 58-62.
-
(2004)
Mol Genet Metab
, vol.81
, Issue.SUPPL. 1
, pp. 58-62
-
-
Gropman, A.L.1
Batshaw, M.L.2
-
29
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies
-
Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED,. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med 1984: 310: 1500-1505. (Pubitemid 14108846)
-
(1984)
New England Journal of Medicine
, vol.310
, Issue.23
, pp. 1500-1505
-
-
Msall, M.1
Batshaw, M.L.2
Suss, R.3
-
30
-
-
77950993464
-
Liver transplantation in children: Update 2010
-
Kamath BM, Olthoff KM,. Liver transplantation in children: Update 2010. Pediatr Clin North Am 2010: 57: 401-414.
-
(2010)
Pediatr Clin North Am
, vol.57
, pp. 401-414
-
-
Kamath, B.M.1
Olthoff, K.M.2
-
31
-
-
38149087576
-
Hepatocyte transplantation followed by auxiliary transplantation - A novel therapy for ornithine carbamylase deficiency
-
Puppi J, Tan N, Hughes RD, et al. Hepatocyte transplantation followed by auxiliary transplantation-A novel therapy for ornithine carbamylase deficiency. Am J Ther 2008: 8: 452-457.
-
(2008)
Am J Ther
, vol.8
, pp. 452-457
-
-
Puppi, J.1
Tan, N.2
Hughes, R.D.3
-
32
-
-
0142089747
-
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer
-
DOI 10.1016/j.ymgme.2003.08.016
-
Raper SE, Chirmule N, Lee FS, et al. Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol Genet Metab 2003: 80: 148-158. (Pubitemid 37272241)
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, Issue.1-2
, pp. 148-158
-
-
Raper, S.E.1
Chirmule, N.2
Lee, F.S.3
Wivel, N.A.4
Bagg, A.5
Gao, G.-P.6
Wilson, J.M.7
Batshaw, M.L.8
-
33
-
-
84863860551
-
Gene therapy for metabolic disorders: An overview with a focus on urea cycle disorders
-
Alexander IE, Kok C, Dane AP, et al. Gene therapy for metabolic disorders: An overview with a focus on urea cycle disorders. J Inherit Metab Dis 2012: 35: 641-645.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 641-645
-
-
Alexander, I.E.1
Kok, C.2
Dane, A.P.3
|