-
1
-
-
0001878491
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds, New York: McGraw-Hill
-
Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases. New York: McGraw-Hill, 1989:629–663.
-
(1989)
The Metabolic basis of Inherited Diseases
, pp. 629-663
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
2
-
-
0023709248
-
Late onset ornithine carbamoyl transferase deficiency in males
-
Drogari E, Leonard JV. Late onset ornithine carbamoyl transferase 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
-
3
-
-
18844481108
-
Late onset ornithine carbamoyl transferase deficiency in males [letter]
-
Kennedy CR, Cogswell JJ. Late onset ornithine carbamoyl transferase deficiency in males [letter]. Arch Dis Child 1989:64:638.
-
(1989)
Arch Dis Child
, vol.64
, pp. 638
-
-
Kennedy, C.R.1
Cogswell, J.J.2
-
4
-
-
0023183473
-
Ornithine transcarbamylase deficiency: Adult onset of severe symptoms
-
Gilchrist JM, Coleman RA. Ornithine transcarbamylase deficiency: adult onset of severe symptoms. Ann Intern Med 1987;106:556–558.
-
(1987)
Ann Intern Med
, vol.106
, pp. 556-558
-
-
Gilchrist, J.M.1
Coleman, R.A.2
-
5
-
-
0022652866
-
Natural history of symptomatic partial ornithine transcarbamylase deficiency
-
Rowe PC, Newman SL, Brusilow SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 1986:314:541–547.
-
(1986)
N Engl J Med
, vol.314
, pp. 541-547
-
-
Rowe, P.C.1
Newman, S.L.2
Brusilow, S.W.3
-
6
-
-
0025296601
-
Hyperammonemia in women with a mutation at the ornithine carbamoyl transferase locus: A cause of postpartum coma
-
Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyl transferase locus: a cause of postpartum coma. N Engl J Med 1990;322:1652–1655.
-
(1990)
N Engl J Med
, vol.322
, pp. 1652-1655
-
-
Arn, P.H.1
Hauser, E.R.2
Thomas, G.H.3
Herman, G.4
Hess, D.5
Brusilow, S.W.6
-
7
-
-
0023024205
-
Valproate toxicity and ornithine carbamoyltransferase deficiency [letter]
-
Kay JDS, Hilton-Jones D, Hyman N. Valproate toxicity and ornithine carbamoyltransferase deficiency [letter]. Lancet 1986;2:1283–1284.
-
(1986)
Lancet
, vol.2
, pp. 1283-1284
-
-
Kay, J.1
Hilton-Jones, D.2
Hyman, N.3
-
8
-
-
0020082461
-
Valproate-induced hyperammonemia
-
Batshaw ML, Brusilow SW. Valproate-induced hyperammonemia. Ann Neurol 1982;11:319–321.
-
(1982)
Ann Neurol
, vol.11
, pp. 319-321
-
-
Batshaw, M.L.1
Brusilow, S.W.2
-
9
-
-
0006322137
-
Ornithine transcarbamylase deficiency
-
Buyse ML, ed., Dover, MA: Center for Birth Defects Information Services
-
Batshaw ML. Ornithine transcarbamylase deficiency. In: Buyse ML, ed. Birth defects encyclopedia. Dover, MA: Center for Birth Defects Information Services, 1990:130–131.
-
(1990)
Birth Defects Encyclopedia
, pp. 130-131
-
-
Batshaw, M.L.1
-
10
-
-
0025296602
-
Precarious balance of nitrogen metabolism in women with a urea-cycle defect [editorial]
-
Horwich AL, Fenton WA. Precarious balance of nitrogen metabolism in women with a urea-cycle defect [editorial]. N Engl J Med 1990;322:1668–1670.
-
(1990)
N Engl J Med
, vol.322
, pp. 1668-1670
-
-
Horwich, A.L.1
Fenton, W.A.2
-
11
-
-
0025293198
-
Allopurinol-induced orotidinuria: A test for mutations at the ornithine carbamoyltransferase locus in women
-
Hauser ER, Finkeistein JE, Valle D, Brusilow SW. Allopurinol-induced orotidinuria: a test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 1990;322:1641–1645.
-
(1990)
N Engl J Med
, vol.322
, pp. 1641-1645
-
-
Hauser, E.R.1
Finkeistein, J.E.2
Valle, D.3
Brusilow, S.W.4
-
12
-
-
0023942909
-
Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency
-
Hamano Y, Kodama H, Fujikawa Y, Tanaka Y, Nishimura K, Yanagisawa M. Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency. N Engl J Med 1988;318:1521–1523.
-
(1988)
N Engl J Med
, vol.318
, pp. 1521-1523
-
-
Hamano, Y.1
Kodama, H.2
Fujikawa, Y.3
Tanaka, Y.4
Nishimura, K.5
Yanagisawa, M.6
-
13
-
-
0024565542
-
Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency
-
Spence JE, Maddalena A, O’Brien WE, et al. Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency. J Pediatr 1989:114:582–588.
-
(1989)
J Pediatr
, vol.114
, pp. 582-588
-
-
Spence, J.E.1
Maddalena, A.2
O’brien, W.E.3
|