-
1
-
-
20644444870
-
Disorders of amino acid metabolism
-
Walker WA et al., eds. St. Louis: Mosby
-
Berry GT. Disorders of amino acid metabolism. In: Walker WA et al., eds. Pediatric Gastrointestinal Diseases. Volume 2, 2nd ed. St. Louis: Mosby, 1996:1137-1154.
-
(1996)
Pediatric Gastrointestinal Diseases. Volume 2, 2nd Ed.
, vol.2
, pp. 1137-1154
-
-
Berry, G.T.1
-
2
-
-
0003335170
-
Metabolic errors and liver disease
-
MacSween RNM, et al., eds. Edinburgh: Churchill Livingstone
-
Ishak KG, Sharp HL. Metabolic errors and liver disease. In: MacSween RNM, et al., eds. Pathology of the Liver. Third ed. Edinburgh: Churchill Livingstone, 1994:123-218.
-
(1994)
Pathology of the Liver. Third Ed.
, pp. 123-218
-
-
Ishak, K.G.1
Sharp, H.L.2
-
3
-
-
0024456109
-
Primary ornithine transcarbamylase deficiency. A case report and electron microscopic study
-
Aida S, Ogata T, Kamota T, Nakamura N. Primary ornithine transcarbamylase deficiency. A case report and electron microscopic study. Acta Pathol Jpn 1989; 39:451-456.
-
(1989)
Acta Pathol Jpn
, vol.39
, pp. 451-456
-
-
Aida, S.1
Ogata, T.2
Kamota, T.3
Nakamura, N.4
-
4
-
-
0021634177
-
Siblings with carbamyl phosphate synthetase I deficiency
-
Asanuma K, Takeuchi Y, Kanda M, Kikuchi Y, Yano N, Kakinuma H. Siblings with carbamyl phosphate synthetase I deficiency. Acta Pathol Jpn 1984; 34:901-910.
-
(1984)
Acta Pathol Jpn
, vol.34
, pp. 901-910
-
-
Asanuma, K.1
Takeuchi, Y.2
Kanda, M.3
Kikuchi, Y.4
Yano, N.5
Kakinuma, H.6
-
6
-
-
0028267317
-
Histopalhological findings in a male with late-onset ornithine transcarbamylase deficiency
-
Capistrano-Estrada S, Marsden DL, Nyhan WL, Newbury RO, Krous HF, Tuchman M. Histopalhological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol 1994; 14:235-243.
-
(1994)
Pediatr Pathol
, vol.14
, pp. 235-243
-
-
Capistrano-Estrada, S.1
Marsden, D.L.2
Nyhan, W.L.3
Newbury, R.O.4
Krous, H.F.5
Tuchman, M.6
-
7
-
-
0014632269
-
Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis
-
Corbeel LM, Colombo JP, Van Sande M, Weber A. Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis. Arch Dis Child 1969; 44:681-687.
-
(1969)
Arch Dis Child
, vol.44
, pp. 681-687
-
-
Corbeel, L.M.1
Colombo, J.P.2
Van Sande, M.3
Weber, A.4
-
8
-
-
0014882901
-
Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase
-
Freeman JM, Nicholson JF, Schimke RT, Rowland LP, Carter S. Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. Arch Neurol 1970; 23:430-437.
-
(1970)
Arch Neurol
, vol.23
, pp. 430-437
-
-
Freeman, J.M.1
Nicholson, J.F.2
Schimke, R.T.3
Rowland, L.P.4
Carter, S.5
-
9
-
-
0015977443
-
Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency
-
Goldstein AS, Hoogenraad NJ, Johnson JD, Fukanaga K, Swierczewski E, Cann HM, Sunshine P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency. Pediatr Res 1974; 8:5-12.
-
(1974)
Pediatr Res
, vol.8
, pp. 5-12
-
-
Goldstein, A.S.1
Hoogenraad, N.J.2
Johnson, J.D.3
Fukanaga, K.4
Swierczewski, E.5
Cann, H.M.6
Sunshine, P.7
-
10
-
-
11244274448
-
Hyperammonaemia due to ornithine transcarbamylase deficiency
-
Hopkins IJ, Connelly JF, Dawson AG, Hird FJR, Maddison TG. Hyperammonaemia due to ornithine transcarbamylase deficiency. Arch Dis Child 1969; 44:143-148.
-
(1969)
Arch Dis Child
, vol.44
, pp. 143-148
-
-
Hopkins, I.J.1
Connelly, J.F.2
Dawson, A.G.3
Hird, F.J.R.4
Maddison, T.G.5
-
11
-
-
0018345175
-
Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease)
-
Krieger I, Snodgrass PJ, Roskamp J. Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). J Clin Endocrinol Metab 1979; 48:388-392.
-
(1979)
J Clin Endocrinol Metab
, vol.48
, pp. 388-392
-
-
Krieger, I.1
Snodgrass, P.J.2
Roskamp, J.3
-
12
-
-
0018412235
-
Heritable urea cycle enzyme deficiency-liver disease in 16 patients
-
LaBrecque DR, Latham PS, Riely CA, Hsia YE, Klatskin G. Heritable urea cycle enzyme deficiency-liver disease in 16 patients. J Pediatr 1979; 94:580-587.
-
(1979)
J Pediatr
, vol.94
, pp. 580-587
-
-
LaBrecque, D.R.1
Latham, P.S.2
Riely, C.A.3
Hsia, Y.E.4
Klatskin, G.5
-
13
-
-
0020378074
-
Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency
-
Landrieu P, Francois B, Lyon G, Van Hoof F. Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency. Pediatr Res 1982; 16:977-981.
-
(1982)
Pediatr Res
, vol.16
, pp. 977-981
-
-
Landrieu, P.1
Francois, B.2
Lyon, G.3
Van Hoof, F.4
-
14
-
-
0021282452
-
Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome
-
Latham PS, LaBrecque DR, McReynolds JW, Klatskin G. Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome. HEPATOLOGY 1984; 4:404-407.
-
(1984)
Hepatology
, vol.4
, pp. 404-407
-
-
Latham, P.S.1
LaBrecque, D.R.2
McReynolds, J.W.3
Klatskin, G.4
-
15
-
-
0014493659
-
Hyperammonaemia: A deficiency of liver ornithine transcarbamylase. Occurrence in mother and child
-
Levin B, Abraham JM, Oberholzer VG, Burgess EA. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child. Arch Dis Child 1969; 44:152-161.
-
(1969)
Arch Dis Child
, vol.44
, pp. 152-161
-
-
Levin, B.1
Abraham, J.M.2
Oberholzer, V.G.3
Burgess, E.A.4
-
16
-
-
0014493301
-
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase
-
Levin B, Dobbs RH, Burgess EA, Palmer T. Hyperammonaemia. A variant type of deficiency 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
Palmer, T.4
-
17
-
-
0015133633
-
Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase
-
Matsuda I, Arashima S, Nambu H, Takekoshi Y, Anakura M. Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase. Pediatrics 1971; 48:595-600.
-
(1971)
Pediatrics
, vol.48
, pp. 595-600
-
-
Matsuda, I.1
Arashima, S.2
Nambu, H.3
Takekoshi, Y.4
Anakura, M.5
-
18
-
-
0018870457
-
Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency
-
Shapiro JM, Schaffner F, Tallan HH, Gaull GE. Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency. Pediatr Res 1980; 14:735-739.
-
(1980)
Pediatr Res
, vol.14
, pp. 735-739
-
-
Shapiro, J.M.1
Schaffner, F.2
Tallan, H.H.3
Gaull, G.E.4
-
19
-
-
0015368117
-
Hyperammonemia due to a defect in hepatic ornithine transcarbamylase
-
Sunshine P, Lindenbaum JE, Levy HL, Freeman JM. Hyperammonemia due to a defect in hepatic ornithine transcarbamylase. Pediatrics 1972; 50:100-111.
-
(1972)
Pediatrics
, vol.50
, pp. 100-111
-
-
Sunshine, P.1
Lindenbaum, J.E.2
Levy, H.L.3
Freeman, J.M.4
-
20
-
-
0020662057
-
Ornithine carbamoyltransferase deficiency in an adult male patient: Significance of hepatic ultrastructure in clinical diagnosis
-
Tallan HH, Schaffner F, Taffet SL, Schneidman K, Gaull GE. Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. Pediatrics 1983; 71:224-232.
-
(1983)
Pediatrics
, vol.71
, pp. 224-232
-
-
Tallan, H.H.1
Schaffner, F.2
Taffet, S.L.3
Schneidman, K.4
Gaull, G.E.5
-
21
-
-
0019826434
-
Ultrastructural pathology in congenital defects of the urea cycle: Ornithine transcarbamylase and carbamylphosphate synthase deficiency
-
Zimmermann A, Bachmann C, Colombo J-P. Ultrastructural pathology in congenital defects of the urea cycle: ornithine transcarbamylase and carbamylphosphate synthase deficiency. Virchow Arch [Pathol Anat] 1981; 393:321-331.
-
(1981)
Virchow Arch [Pathol Anat]
, vol.393
, pp. 321-331
-
-
Zimmermann, A.1
Bachmann, C.2
Colombo, J.-P.3
|