-
1
-
-
0001878491
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, NY, McGraw-Hill Information Services
-
Brusilow SW, Horwich AL: Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The metabolic basis of inherited disease (ed 6). New York, NY, McGraw-Hill Information Services, 1989, pp 629-663
-
(1989)
The Metabolic Basis of Inherited Disease (Ed 6)
, pp. 629-663
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
3
-
-
0022642207
-
Risk of serious illness in heterozygotes for OTC deficiency
-
Batshaw ML, Small M, Beaudet AL, et al: Risk of serious illness in heterozygotes for OTC deficiency. J Pediatr 1986;108:236-241
-
(1986)
J Pediatr
, vol.108
, pp. 236-241
-
-
Batshaw, M.L.1
Small, M.2
Beaudet, A.L.3
-
4
-
-
0014493301
-
Hyperammonemia: A variant type of liver ornithine transcarbamylase
-
Levin B, Dobbs RH, Burgess EA, et al: Hyperammonemia: A variant type of liver ornithine transcarbamylase. Arch Dis Child 1969;44:162-169
-
(1969)
Arch Dis Child
, vol.44
, pp. 162-169
-
-
Levin, B.1
Dobbs, R.H.2
Burgess, E.A.3
-
5
-
-
0018906124
-
OTC deficiency in a boy with normal development
-
Yudkoff M, Yang W, Snodgrass PJ, et al: OTC deficiency in a boy with normal development. J Pediatr 1980;96:441-443
-
(1980)
J Pediatr
, vol.96
, pp. 441-443
-
-
Yudkoff, M.1
Yang, W.2
Snodgrass, P.J.3
-
6
-
-
0022541289
-
OTC deficiency - A cause of bizarre behavior in a man
-
DiMagno EP, Lowe JE, Snodgrass PJ, et al: OTC deficiency - A cause of bizarre behavior in a man. N Engl J Med 1986;315:744-747
-
(1986)
N Engl J Med
, vol.315
, pp. 744-747
-
-
DiMagno, E.P.1
Lowe, J.E.2
Snodgrass, P.J.3
-
7
-
-
0023709248
-
Late onset OTC deficiency in males
-
Drogari E, Leonard JV: Late onset OTC deficiency in males. Arch Dis Child 1988;63:1363-1367
-
(1988)
Arch Dis Child
, vol.63
, pp. 1363-1367
-
-
Drogari, E.1
Leonard, J.V.2
-
8
-
-
0028085701
-
Recurrent episodes of bizarre behavior in a boy with OTC deficiency: Diagnostic failure of protein loading and allopurinol challenge tests
-
Spada M, Guardamagna O, Rabier D, et al: Recurrent episodes of bizarre behavior in a boy with OTC deficiency: Diagnostic failure of protein loading and allopurinol challenge tests. J Pediatr 1994;125: 249-251
-
(1994)
J Pediatr
, vol.125
, pp. 249-251
-
-
Spada, M.1
Guardamagna, O.2
Rabier, D.3
-
9
-
-
0022415171
-
Chronic benzoate therapy in a boy with partial OTC deficiency
-
Letarte J, Qureshi IA, Quellet R, et al: Chronic benzoate therapy in a boy with partial OTC deficiency. J Pediatr 1985;106:794-797
-
(1985)
J Pediatr
, vol.106
, pp. 794-797
-
-
Letarte, J.1
Qureshi, I.A.2
Quellet, R.3
-
10
-
-
0025691549
-
OTC deficiency in male adolescents and adulthood
-
Yoshino M, Nishiyori J, Yamashite F, et al: OTC deficiency in male adolescents and adulthood. Enzyme 1990;43:160-168
-
(1990)
Enzyme
, vol.43
, pp. 160-168
-
-
Yoshino, M.1
Nishiyori, J.2
Yamashite, F.3
-
11
-
-
16044371552
-
Metabolic Emergencies (Inborn Errors of Metabolism)
-
Fleisher GR, Ludwig S (eds): Baltimore, MD, Williams and Wilkins
-
Yudkoff M: Metabolic Emergencies (Inborn Errors of Metabolism). In Fleisher GR, Ludwig S (eds): Textbook of Pediatric Emergency Medicine (ed 3). Baltimore, MD, Williams and Wilkins, 1993, pp 962-967
-
(1993)
Textbook of Pediatric Emergency Medicine (Ed 3)
, pp. 962-967
-
-
Yudkoff, M.1
-
12
-
-
0027074530
-
The clinical, biochemical, and molecular spectrum of OTC deficiency
-
Tuchman M: The clinical, biochemical, and molecular spectrum of OTC deficiency. J Lab Clin Med 1992;120:836-850
-
(1992)
J Lab Clin Med
, vol.120
, pp. 836-850
-
-
Tuchman, M.1
-
13
-
-
0028847824
-
OTC deficiency: New sites with increased probability of mutation
-
Leibundgut EO, Liechti-Gallati S, Colombo JP, et al: OTC deficiency: New sites with increased probability of mutation. Hum Genet 1995;95:191-196
-
(1995)
Hum Genet
, vol.95
, pp. 191-196
-
-
Leibundgut, E.O.1
Liechti-Gallati, S.2
Colombo, J.P.3
-
14
-
-
0000467069
-
Hyperammonemia: A new instance of an inborn enzymatic defect of the biosynthesis of urea
-
Russel A, Levin B, Oberholzer VG, et al: Hyperammonemia: A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet 1962;2:699-700
-
(1962)
Lancet
, vol.2
, pp. 699-700
-
-
Russel, A.1
Levin, B.2
Oberholzer, V.G.3
-
15
-
-
0015499306
-
Partial OTC deficiency: An inborn error of urea cycle presenting as orotic aciduria in a male infant
-
MacLeod P, MacKenzie S, Scriver CR: Partial OTC deficiency: an inborn error of urea cycle presenting as orotic aciduria in a male infant. Can Med Assoc J 1972;107:405-408
-
(1972)
Can Med Assoc J
, vol.107
, pp. 405-408
-
-
MacLeod, P.1
MacKenzie, S.2
Scriver, C.R.3
-
16
-
-
0025105253
-
A probable sex difference in mutation rates in OTC deficiency
-
Bonaiti-Pellie' C, Pelet A, Ogier H, et al: A probable sex difference in mutation rates in OTC deficiency. Hum Genet 1990;84: 163-166
-
(1990)
Hum Genet
, vol.84
, pp. 163-166
-
-
Bonaiti-Pellie, C.1
Pelet, A.2
Ogier, H.3
-
17
-
-
0028070958
-
Rapidly fatal hyperammonemic coma in adults - Urea cycle enzyme deficiency
-
Wilson BE, Hobbs WN, Newmark JJ, et al: Rapidly fatal hyperammonemic coma in adults - Urea cycle enzyme deficiency. West J Med 1994;161:166-168
-
(1994)
West J Med
, vol.161
, pp. 166-168
-
-
Wilson, B.E.1
Hobbs, W.N.2
Newmark, J.J.3
-
18
-
-
0025783898
-
Valproate-induced lethal hyperammonemic coma in a carrier of ornithine carbamoyltransferase deficiency
-
Tokatli A, Caskun T, Cataltepe S, et al: Valproate-induced lethal hyperammonemic coma in a carrier of ornithine carbamoyltransferase deficiency. J Inher Metab Dis 1991;14:836-837
-
(1991)
J Inher Metab Dis
, vol.14
, pp. 836-837
-
-
Tokatli, A.1
Caskun, T.2
Cataltepe, S.3
-
19
-
-
0019176794
-
Reye-like syndrome associated with use of insect repellent in a presumed heterozygote for OTC deficiency
-
Heick HM, Shipman RT, Norman MG, et al: Reye-like syndrome associated with use of insect repellent in a presumed heterozygote for OTC deficiency. J Pediatr 1980;97:471-473
-
(1980)
J Pediatr
, vol.97
, pp. 471-473
-
-
Heick, H.M.1
Shipman, R.T.2
Norman, M.G.3
-
20
-
-
0026326971
-
Urea cycle defect: A case with MR and CT findings resembling infarct
-
Mamourian AC, dePlessis A: Urea cycle defect: A case with MR and CT findings resembling infarct. Pediatr Radiol 1991;21:594-595
-
(1991)
Pediatr Radiol
, vol.21
, pp. 594-595
-
-
Mamourian, A.C.1
DePlessis, A.2
-
21
-
-
0027464868
-
OTC deficiency presenting with strokelike episodes
-
Christodoulou J, Qureshi IA, McInnes RR, et al: OTC deficiency presenting with strokelike episodes. J Pediatr 1993;122:423-425
-
(1993)
J Pediatr
, vol.122
, pp. 423-425
-
-
Christodoulou, J.1
Qureshi, I.A.2
McInnes, R.R.3
|