-
1
-
-
0020057470
-
Treatment of inborn errors of urea synthesis: Activation of alternative pathways of waste nitrogen synthesis and excretion
-
Batshaw ML, Brusilow S, Waber L, Blom W, Brubakk AM, Burton BK, et al. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med 1982;306:1387-92.
-
(1982)
N Engl J Med
, vol.306
, pp. 1387-1392
-
-
Batshaw, M.L.1
Brusilow, S.2
Waber, L.3
Blom, W.4
Brubakk, A.M.5
Burton, B.K.6
-
2
-
-
0021963973
-
The early detection and management of inborn errors presenting acutely in the neonatal period
-
Leonard JV. The early detection and management of inborn errors presenting acutely in the neonatal period. Eur J Pediatr 1985;143:253-7.
-
(1985)
Eur J Pediatr
, vol.143
, pp. 253-257
-
-
Leonard, J.V.1
-
4
-
-
0035139898
-
Consensus statement from a conference for the management of patients with urea cycle disorders
-
Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr 2001;138(Suppl 1):S1-5.
-
(2001)
J Pediatr
, vol.138
, Issue.1 SUPPL.
-
-
-
5
-
-
0035025079
-
Hyperammonemia in urea cycle disorders: Role of the nephrologist
-
Mathias RS, Kostiner D, Packman S. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidney Dis 2001;37:1069-80.
-
(2001)
Am J Kidney Dis
, vol.37
, pp. 1069-1080
-
-
Mathias, R.S.1
Kostiner, D.2
Packman, S.3
-
6
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis: Outcome of ureacycle enzymopathies
-
Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED. neurologic outcome in children with inborn errors of urea synthesis: outcome of ureacycle enzymopathies. N Engl J Med 1984;310:1500-5.
-
(1984)
N Engl J Med
, vol.310
, pp. 1500-1505
-
-
Msall, M.1
Batshaw, M.L.2
Suss, R.3
Brusilow, S.W.4
Mellits, E.D.5
-
7
-
-
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(Suppl 1):S6-10.
-
(2001)
J Pediatr
, vol.138
, Issue.1 SUPPL.
-
-
Summar, M.1
Tuchman, M.2
-
8
-
-
0029080358
-
Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization
-
Hoshide R, Soejima H, Ohta T, Niikawa N, Haraguchi Y, Matsuura T, et al. Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization. Genomics 1995;28: 124-125.
-
(1995)
Genomics
, vol.28
, pp. 124-125
-
-
Hoshide, R.1
Soejima, H.2
Ohta, T.3
Niikawa, N.4
Haraguchi, Y.5
Matsuura, T.6
-
9
-
-
0021685476
-
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus
-
Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science 1984;226:698-700.
-
(1984)
Science
, vol.226
, pp. 698-700
-
-
Lindgren, V.1
De Martinville, B.2
Horwich, A.L.3
Rosenberg, L.E.4
Francke, U.5
-
10
-
-
0024746977
-
Multilocus linkage analysis with the human argininosuccinate synthetase gene
-
Northrup H, Lathrop M, Lu SY, Daiger SP, Beaudet AL, O'Brien WE. Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics 1989;5:442-4.
-
(1989)
Genomics
, vol.5
, pp. 442-444
-
-
Northrup, H.1
Lathrop, M.2
Lu, S.Y.3
Daiger, S.P.4
Beaudet, A.L.5
O'Brien, W.E.6
-
11
-
-
0024530503
-
cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase
-
Todd S, McGill JR, McCombs JL, Moore CM, Weider I, Naylor SL. cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase. Genomics 1989;4:53-9.
-
(1989)
Genomics
, vol.4
, pp. 53-59
-
-
Todd, S.1
McGill, J.R.2
McCombs, J.L.3
Moore, C.M.4
Weider, I.5
Naylor, S.L.6
-
12
-
-
0022547276
-
The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23
-
Sparkes RS, Dizikes GJ, Klisak I, Grody WW, Mohandas T, Heinzmann C, et al. The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23. Am J Hum Genet 1986;39:186-93.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 186-193
-
-
Sparkes, R.S.1
Dizikes, G.J.2
Klisak, I.3
Grody, W.W.4
Mohandas, T.5
Heinzmann, C.6
-
13
-
-
0036926142
-
Cloning and expression of the human N-acetylglutamate synthase gene
-
Caldovic L, Morizonon H, Panglao MG, Gallegos R, Yu X, Shi D, et al. Cloning and expression of the human N-acetylglutamate synthase gene. Biochem Biophys Res Commun 2002;299:581-6.
-
(2002)
Biochem Biophys Res Commun
, vol.299
, pp. 581-586
-
-
Caldovic, L.1
Morizonon, H.2
Panglao, M.G.3
Gallegos, R.4
Yu, X.5
Shi, D.6
-
14
-
-
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(Suppl 1):S30-9.
-
(2001)
J Pediatr
, vol.138
, Issue.1 SUPPL.
-
-
Summar, M.1
-
15
-
-
0035145675
-
The nutritional management of urea cycle disorders
-
Leonard JV. The nutritional management of urea cycle disorders. J Pediatr 2001;138(Suppl 1):S40-5.
-
(2001)
J Pediatr
, vol.138
, Issue.1 SUPPL.
-
-
Leonard, J.V.1
-
16
-
-
0017889529
-
Treatment of ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids
-
McReynolds JW, Mantagos S, Brusilow S, Rosenberg LE. Treatment of ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids. J Pediatr 1978;93:421-7.
-
(1978)
J Pediatr
, vol.93
, pp. 421-427
-
-
McReynolds, J.W.1
Mantagos, S.2
Brusilow, S.3
Rosenberg, L.E.4
-
17
-
-
0019127272
-
Treatment of hyperammonemic coma caused by inborn errors of urea synthesis
-
Batshaw ML, Brusilow SW. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr 1980;97:893-900.
-
(1980)
J Pediatr
, vol.97
, pp. 893-900
-
-
Batshaw, M.L.1
Brusilow, S.W.2
-
18
-
-
0021174020
-
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis
-
Brusilow SW, Danney M, Waber LJ, Batshaw M, Burton B, Levitsky L, et al. Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N Engl J Med 1984;310:1630-4.
-
(1984)
N Engl J Med
, vol.310
, pp. 1630-1634
-
-
Brusilow, S.W.1
Danney, M.2
Waber, L.J.3
Batshaw, M.4
Burton, B.5
Levitsky, L.6
-
20
-
-
0016526503
-
The therapy of hyperammonemia due to ornithine transcarbamylase deficiency in a male neonate
-
Snyderman SE, Sansaricq C, Phansalkar SV, Schacht RG, Norton PM. The therapy of hyperammonemia due to ornithine transcarbamylase deficiency in a male neonate. Pediatrics 1975;56:65-73.
-
(1975)
Pediatrics
, vol.56
, pp. 65-73
-
-
Snyderman, S.E.1
Sansaricq, C.2
Phansalkar, S.V.3
Schacht, R.G.4
Norton, P.M.5
-
21
-
-
0015633467
-
Peritoneal clearance of ammonia and creatinine in a neonate
-
Siegel NJ, Brown RS. Peritoneal clearance of ammonia and creatinine in a neonate. J Pediatr 1973;82:1044-6.
-
(1973)
J Pediatr
, vol.82
, pp. 1044-1046
-
-
Siegel, N.J.1
Brown, R.S.2
-
22
-
-
0033746338
-
Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonemia due to ornithine transcarbamylase deficiency
-
Chen CY, Chen YC, Fang JT, Huang CC. Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonemia due to ornithine transcarbamylase deficiency. Ren Fail 2000;22:823-36.
-
(2000)
Ren Fail
, vol.22
, pp. 823-836
-
-
Chen, C.Y.1
Chen, Y.C.2
Fang, J.T.3
Huang, C.C.4
-
23
-
-
0034752542
-
Extracorporeal dialysis in neonatal hyperammonemia: Modalities and prognostic indicators
-
Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 2001;16:862-7.
-
(2001)
Pediatr Nephrol
, vol.16
, pp. 862-867
-
-
Picca, S.1
Dionisi-Vici, C.2
Abeni, D.3
Pastore, A.4
Rizzo, C.5
Orzalesi, M.6
-
24
-
-
0025016302
-
Continuous arteriovenous haemofiltration in hyperammonaemia of newborn babies
-
Sperl W, Geiger R, Maurer H, Guggenbichler JP. Continuous arteriovenous haemofiltration in hyperammonaemia of newborn babies. Lancet 1990;336:1192-3.
-
(1990)
Lancet
, vol.336
, pp. 1192-1193
-
-
Sperl, W.1
Geiger, R.2
Maurer, H.3
Guggenbichler, J.P.4
-
25
-
-
0026539212
-
Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia
-
Sperl W, Geiger R, Maurer H, Murr C, Schmoigl C, Steichen-Gersdorf E, et al. Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia. J Inherit Metab Dis 1992;15:158-9.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 158-159
-
-
Sperl, W.1
Geiger, R.2
Maurer, H.3
Murr, C.4
Schmoigl, C.5
Steichen-Gersdorf, E.6
-
26
-
-
0032945190
-
Dialysis in neonates with inborn errors of metabolism
-
Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E. Dialysis in neonates with inborn errors of metabolism. Pediatr Nephrol 1999;14:910-8.
-
(1999)
Pediatr Nephrol
, vol.14
, pp. 910-918
-
-
Schaefer, F.1
Straube, E.2
Oh, J.3
Mehls, O.4
Mayatepek, E.5
-
27
-
-
0031681271
-
Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration
-
Wong KY, Wong SN, Lam SY, Tam S, Tsoi NS. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration. Pediatr Nephrol 1998;12:589-91.
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 589-591
-
-
Wong, K.Y.1
Wong, S.N.2
Lam, S.Y.3
Tam, S.4
Tsoi, N.S.5
-
28
-
-
0028211505
-
Acute hemodialysis of infants weighing less than five kilograms
-
Sadowski RH, Harmon WE, Jabs K. Acute hemodialysis of infants weighing less than five kilograms. Kidney Int 1994;45:903-6.
-
(1994)
Kidney Int
, vol.45
, pp. 903-906
-
-
Sadowski, R.H.1
Harmon, W.E.2
Jabs, K.3
-
29
-
-
0018888564
-
The management of life-threatening hyperammonemia: A comparison of several therapeutic modalities
-
Wiegand C, Thompson T, Bock GH, Mathis RK, Kjellstrand CM, Mauer SM. The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities. J Pediatr 1980;96:142-4.
-
(1980)
J Pediatr
, vol.96
, pp. 142-144
-
-
Wiegand, C.1
Thompson, T.2
Bock, G.H.3
Mathis, R.K.4
Kjellstrand, C.M.5
Mauer, S.M.6
-
30
-
-
0018375822
-
Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant
-
Donn SM, Swartz RD, Thoene JG. Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant. J Pediatr 1979;95:67-70.
-
(1979)
J Pediatr
, vol.95
, pp. 67-70
-
-
Donn, S.M.1
Swartz, R.D.2
Thoene, J.G.3
-
31
-
-
0029870384
-
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia
-
Summar M, Pietsch J, Deshpande J, Schulman G. Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr 1996;128:379-82.
-
(1996)
J Pediatr
, vol.128
, pp. 379-382
-
-
Summar, M.1
Pietsch, J.2
Deshpande, J.3
Schulman, G.4
-
32
-
-
0033998978
-
Amino acid losses during hemodialysis with polyacrylonitrile membranes: Effect of intradialytic amino acid supplementation on plasma amino acid concentrations and nutritional variables in nondiabetic patients
-
Navarro JF, Mora C, Leon C, Martin-Del Rio R, Macia ML, Gallego E, et al. Amino acid losses during hemodialysis with polyacrylonitrile membranes: effect of intradialytic amino acid supplementation on plasma amino acid concentrations and nutritional variables in nondiabetic patients. Am J Clin Nutr 2000;71:765-73.
-
(2000)
Am J Clin Nutr
, vol.71
, pp. 765-773
-
-
Navarro, J.F.1
Mora, C.2
Leon, C.3
Martin-Del Rio, R.4
Macia, M.L.5
Gallego, E.6
-
33
-
-
0034063198
-
Amino acid loss and nitrogen balance in critically ill children with acute renal failure: A prospective comparison between classic hemofiltration and hemofiltration with dialysis
-
Maxvold NJ, Smoyer WE, Custer JR, Bunchman TE. Amino acid loss and nitrogen balance in critically ill children with acute renal failure: a prospective comparison between classic hemofiltration and hemofiltration with dialysis. Crit Care Med 2000;28:1161-5.
-
(2000)
Crit Care Med
, vol.28
, pp. 1161-1165
-
-
Maxvold, N.J.1
Smoyer, W.E.2
Custer, J.R.3
Bunchman, T.E.4
-
34
-
-
0025313474
-
Phenylacetylglutamine and hippuric acid in uremic and healthy subjects
-
Zimmerman L, Jörnavall H, Bergström J. Phenylacetylglutamine and hippuric acid in uremic and healthy subjects. Nephron 1990,55:265-71.
-
(1990)
Nephron
, vol.55
, pp. 265-271
-
-
Zimmerman, L.1
Jörnavall, H.2
Bergström, J.3
|