-
1
-
-
0001564260
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, et al, editors. New York: McGraw-Hill
-
Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, et al, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 1909-63.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease. 8th Ed.
, pp. 1909-1963
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
2
-
-
0012436605
-
Disorders of the urea cycle
-
Fernandes J, Saudubray J-M, van den Berghe G, editors. Berlin: Springer
-
Leonard JV, Disorders of the urea cycle. In: Fernandes J, Saudubray J-M, van den Berghe G, editors. Inborn metabolic diseases. 3rd ed. Berlin: Springer; 2000. p. 215-6.
-
(2000)
Inborn Metabolic Diseases. 3rd Ed.
, pp. 215-216
-
-
Leonard, J.V.1
-
3
-
-
0031720666
-
Adult-onset arginase deficiency
-
Cowley DM, Bowling FG, McGill JJ, Van Dongen J, Morris D. Adult-onset arginase deficiency. J Inherit Metab Dis 1998;21:677-8.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 677-678
-
-
Cowley, D.M.1
Bowling, F.G.2
McGill, J.J.3
Van Dongen, J.4
Morris, D.5
-
4
-
-
0022980117
-
A new case of arginase deficiency in a Spanish male
-
Jordá A, Rubio V, Portolés M, Vilas J, García-Piño. A new case of arginase deficiency in a Spanish male. J Inherit Metab Dis 1986;9:393-7.
-
(1986)
J Inherit Metab Dis
, vol.9
, pp. 393-397
-
-
Jordá, A.1
Rubio, V.2
Portolés, M.3
Vilas, J.4
García-Piño5
-
5
-
-
0342960821
-
Localized proton MR spectroscopy in infants with urea cycle defect
-
Choi CG, Yoo HW. Localized proton MR spectroscopy in infants with urea cycle defect. Am J Neuroradiol 2001;22:834-7.
-
(2001)
Am J Neuroradiol
, vol.22
, pp. 834-837
-
-
Choi, C.G.1
Yoo, H.W.2
-
6
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program
-
Ytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 2001;47:1945-55.
-
(2001)
Clin Chem
, vol.47
, pp. 1945-1955
-
-
Ytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
Larson, C.A.4
Shih, V.E.5
Johnson, D.M.6
-
7
-
-
0015359068
-
Arginase deficiency in Macaca Fascicularis. I. Arginase activity and arginine concentrations in erythrocytes and liver
-
Shih VE, Jones TC, Levy HL, Madigan PM. Arginase deficiency in Macaca Fascicularis. I. Arginase activity and arginine concentrations in erythrocytes and liver. Pediatr Res 1972;6:548-51.
-
(1972)
Pediatr Res
, vol.6
, pp. 548-551
-
-
Shih, V.E.1
Jones, T.C.2
Levy, H.L.3
Madigan, P.M.4
-
8
-
-
0024504134
-
Differential expression of the two human arginase genes in hyperargininemia
-
Grody WW, Argyle C, Kern RM, Dizikes GJ, Spector EB, Strictdand AD, et al. Differential expression of the two human arginase genes in hyperargininemia. J Clin Invest 1988;83:602-9.
-
(1988)
J Clin Invest
, vol.83
, pp. 602-609
-
-
Grody, W.W.1
Argyle, C.2
Kern, R.M.3
Dizikes, G.J.4
Spector, E.B.5
Strickland, A.D.6
-
9
-
-
0030900567
-
Hyperargininemia presenting as persistant neonatal jaundice and hepatic cirrhosis
-
Braga AC, Vilarinho L, Ferreira E, Rocha H. Hyperargininemia presenting as persistant neonatal jaundice and hepatic cirrhosis. J Ped Gastro Nutr 1997;24:218-21.
-
(1997)
J Ped Gastro Nutr
, vol.24
, pp. 218-221
-
-
Braga, A.C.1
Vilarinho, L.2
Ferreira, E.3
Rocha, H.4
-
10
-
-
0033916069
-
Arginase deficiency presenting with cerebral oedema and failure to thrive
-
Harrington JW, Stiefl M, Gianos E. Arginase deficiency presenting with cerebral oedema and failure to thrive. J Inherit Metab Dis 2000;23:517-8.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 517-518
-
-
Harrington, J.W.1
Stiefl, M.2
Gianos, E.3
-
12
-
-
0018388859
-
Hyperargininemia with arginase deficiency
-
Cederbaum SD, Shaw KN, Spector FB, Verity MA, Snodgrass PJ, Sugarman GI. Hyperargininemia with arginase deficiency. Pediatr Res 1979;13:827-33.
-
(1979)
Pediatr Res
, vol.13
, pp. 827-833
-
-
Cederbaum, S.D.1
Shaw, K.N.2
Spector, F.B.3
Verity, M.A.4
Snodgrass, P.J.5
Sugarman, G.I.6
-
13
-
-
0027502781
-
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isoenzyme
-
Grody WW, Kern RM, Klein D, Dodson AE, Wissman PB, Barsky SH, et al. Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isoenzyme. Hum Genet 1993;91:1-5.
-
(1993)
Hum Genet
, vol.91
, pp. 1-5
-
-
Grody, W.W.1
Kern, R.M.2
Klein, D.3
Dodson, A.E.4
Wissman, P.B.5
Barsky, S.H.6
-
14
-
-
0029788778
-
Severity of hyperammonemic encephalopathy correlates with brain ammonia level and saturation of glutamine synthetase in vivo
-
Kanamori K, Ross BD, Chung JC, Kuo EL. Severity of hyperammonemic encephalopathy correlates with brain ammonia level and saturation of glutamine synthetase in vivo. J Neurochem 1996;67:1584-94.
-
(1996)
J Neurochem
, vol.67
, pp. 1584-1594
-
-
Kanamori, K.1
Ross, B.D.2
Chung, J.C.3
Kuo, E.L.4
-
15
-
-
0034957318
-
Glutamine as a pathogenic factor in hepatic encephalopathy
-
Albrecht J, Dolinska M. Glutamine as a pathogenic factor in hepatic encephalopathy. J Neurosci Res 2001;65:1-5.
-
(2001)
J Neurosci Res
, vol.65
, pp. 1-5
-
-
Albrecht, J.1
Dolinska, M.2
-
17
-
-
0030062478
-
Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat
-
Willard-Mack CL, Koehler RC, Hirata T, Cork LC, Takahashi H, Traystman RJ, et al. Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat. Neuroscience 1996;71:589-99.
-
(1996)
Neuroscience
, vol.71
, pp. 589-599
-
-
Willard-Mack, C.L.1
Koehler, R.C.2
Hirata, T.3
Cork, L.C.4
Takahashi, H.5
Traystman, R.J.6
|