-
1
-
-
0037944015
-
Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation
-
Bachmann C (2003) Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr 162: 410-416.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 410-416
-
-
Bachmann, C.1
-
2
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, and therapy
-
Brusilow SW, Maestri NE (1996) Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 43: 127-170.
-
(1996)
Adv. Pediatr.
, vol.43
, pp. 127-170
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
3
-
-
0001564260
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
-
Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1909-1963.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1909-1963
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
5
-
-
0022541289
-
Ornithine transcarbamylase deficiency: A cause of bizarre behavior in a man
-
Dimagno EP, Lowe JE, Snodgrass PJ, Jones JD (1986) Ornithine transcarbamylase deficiency: A cause of bizarre behavior in a man. N Engl J Med 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
Jones, J.D.4
-
6
-
-
0023709248
-
Late-onset ornithine transcarbamylase deficiency in males
-
Drogari E, Leonard JV (1988) Late-onset ornithine transcarbamylase deficiency in males. Arch Dis Child 63: 1363-1367.
-
(1988)
Arch. Dis. Child
, vol.63
, pp. 1363-1367
-
-
Drogari, E.1
Leonard, J.V.2
-
8
-
-
0037978092
-
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder
-
Horslen SP, McCowan TC, Goertzen TC, et al (2003) Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Pediatrics 111: 1262-1267.
-
(2003)
Pediatrics
, vol.111
, pp. 1262-1267
-
-
Horslen, S.P.1
McCowan, T.C.2
Goertzen, T.C.3
-
9
-
-
0012436605
-
Urea cycle defects
-
Fernandes J, Saudubray JM, Van den Berghe G, eds. Berlin: Springer
-
Leonard JV (2000) Urea cycle defects. In: Fernandes J, Saudubray JM, Van den Berghe G, eds. Inborn Metabolic Diseases. Berlin: Springer, 213-222.
-
(2000)
Inborn Metabolic Diseases
, pp. 213-222
-
-
Leonard, J.V.1
-
10
-
-
1642506318
-
The role of liver transplantation in urea cycle disorders
-
Leonard JV, McKiernan PJ (2004) The role of liver transplantation in urea cycle disorders. Mol Genet Metab 81: S74-S78.
-
(2004)
Mol. Genet. Metab.
, vol.81
-
-
Leonard, J.V.1
McKiernan, P.J.2
-
11
-
-
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
-
McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B (2004) 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. Pediatrics 114: e523-526.
-
(2004)
Pediatrics
, vol.114
-
-
McBride, K.L.1
Miller, G.2
Carter, S.3
Karpen, S.4
Goss, J.5
Lee, B.6
-
12
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis
-
Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED (1984) Neurologic outcome in children with inborn errors of urea synthesis. N Engl J Med 310: 1500-1505.
-
(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
-
13
-
-
0036461110
-
The neurological outcome of patients with ornithine carbamoyltransferase deficiency
-
Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R (2002) The neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 86: 54-56.
-
(2002)
Arch. Dis. Child
, vol.86
, pp. 54-56
-
-
Nicolaides, P.1
Liebsch, D.2
Dale, N.3
Leonard, J.4
Surtees, R.5
-
14
-
-
0022652866
-
Natural history of symptomatic partial ornithine transcarbamylase deficiency
-
Rowe PC, Newman SL, Brusilow SW (1986) Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 314: 541-547.
-
(1986)
N. Engl. J. Med.
, vol.314
, pp. 541-547
-
-
Rowe, P.C.1
Newman, S.L.2
Brusilow, S.W.3
-
15
-
-
0032732091
-
Liver transplantation in urea cycle disorders
-
Saudubray JM, Touati G, Delonlay P, et al (1999) Liver transplantation in urea cycle disorders. Eur J Pediatr 158(Supplement 2): S55-S59.
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
Saudubray, J.M.1
Touati, G.2
Delonlay, P.3
-
17
-
-
0025948073
-
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency
-
Tuchman M, Holznecht RA (1991) Heterogeneity of patients with late onset ornithine transcarbamylase deficiency. Clin Invest Med 14: 320-324.
-
(1991)
Clin. Invest. Med.
, vol.14
, pp. 320-324
-
-
Tuchman, M.1
Holznecht, R.A.2
-
18
-
-
0031926212
-
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
-
Uchino T, Endo F, Matsuda I (1998) Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 21: 151-159.
-
(1998)
J. Inherit Metab. Dis.
, vol.21
, pp. 151-159
-
-
Uchino, T.1
Endo, F.2
Matsuda, I.3
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