-
1
-
-
0038000608
-
N-acetylglutamate and its changing role through evolution
-
L. Caldovic, and M. Tuchman N-acetylglutamate and its changing role through evolution Biochem J 372 2003 279 290
-
(2003)
Biochem J
, vol.372
, pp. 279-290
-
-
Caldovic, L.1
Tuchman, M.2
-
2
-
-
0020392133
-
N-acetylglutamate synthetase (NAGS) deficiency: Diagnosis, clinical observations and treatment
-
C. Bachmann, J.P. Colombo, and K. Jaggi N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment Adv Exp Med Biol 153 1982 39 45
-
(1982)
Adv Exp Med Biol
, vol.153
, pp. 39-45
-
-
Bachmann, C.1
Colombo, J.P.2
Jaggi, K.3
-
3
-
-
0019888928
-
N-acetylglutamate synthetase deficiency: A disorder of ammonia detoxification
-
C. Bachmann, S. Krahenbuhl, J.P. Colombo, G. Schubiger, K.H. Jaggi, and O. Tonz N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification N Engl J Med 304 1981 543
-
(1981)
N Engl J Med
, vol.304
, pp. 543
-
-
Bachmann, C.1
Krahenbuhl, S.2
Colombo, J.P.3
Schubiger, G.4
Jaggi, K.H.5
Tonz, O.6
-
4
-
-
0036926142
-
Cloning and expression of the human N-acetylglutamate synthase gene
-
L. Caldovic, H. Morizono, M. Gracia Panglao, R. Gallegos, X. Yu, and D. Shi Cloning and expression of the human N-acetylglutamate synthase gene Biochem Biophys Res Commun 299 2002 581 586
-
(2002)
Biochem Biophys Res Commun
, vol.299
, pp. 581-586
-
-
Caldovic, L.1
Morizono, H.2
Gracia Panglao, M.3
Gallegos, R.4
Yu, X.5
Shi, D.6
-
5
-
-
0038485942
-
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia
-
L. Caldovic, H. Morizono, M. Panglao, S.F. Cheng, S. Packman, and M. Tuchman Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia Hum Genet 112 2003 364 368
-
(2003)
Hum Genet
, vol.112
, pp. 364-368
-
-
Caldovic, L.1
Morizono, H.2
Panglao, M.3
Cheng, S.F.4
Packman, S.5
Tuchman, M.6
-
6
-
-
0029992537
-
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency
-
M. Yudkoff, Y. Daikhin, I. Nissim, A. Jawad, J. Wilson, and M.L. Batshaw In vivo nitrogen metabolism in ornithine transcarbamylase deficiency J Clin Invest 98 1996 2167 2173
-
(1996)
J Clin Invest
, vol.98
, pp. 2167-2173
-
-
Yudkoff, M.1
Daikhin, Y.2
Nissim, I.3
Jawad, A.4
Wilson, J.5
Batshaw, M.L.6
-
7
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
A.C. Muntau, W. Roschinger, M. Habich, H. Demmelmair, B. Hoffman, and C.P. Sommerhoff Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria N Engl J Med 347 2002 2122 2132
-
(2002)
N Engl J Med
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
Demmelmair, H.4
Hoffman, B.5
Sommerhoff, C.P.6
-
8
-
-
0015909861
-
Vitamin-responsive inborn errors of metabolism
-
C.R. Scriver Vitamin-responsive inborn errors of metabolism Metabolism 22 1973 1319 1344
-
(1973)
Metabolism
, vol.22
, pp. 1319-1344
-
-
Scriver, C.R.1
-
9
-
-
0020612790
-
Inhibition of ureagenesis by valproate in rat hepatocytes. Role of N- acetylglutamate and acetyl-CoA
-
F.X. Coude, G. Grimber, P. Parvy, D. Rabier, and F. Petit Inhibition of ureagenesis by valproate in rat hepatocytes. Role of N- acetylglutamate and acetyl-CoA Biochem J 216 1983 233 236
-
(1983)
Biochem J
, vol.216
, pp. 233-236
-
-
Coude, F.X.1
Grimber, G.2
Parvy, P.3
Rabier, D.4
Petit, F.5
-
10
-
-
0018595957
-
Inhibition by propionyl-coenzyme a of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia
-
F.X. Coude, L. Sweetman, and W.L. Nyhan Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia J Clin Invest 64 1979 1544 1551
-
(1979)
J Clin Invest
, vol.64
, pp. 1544-1551
-
-
Coude, F.X.1
Sweetman, L.2
Nyhan, W.L.3
-
11
-
-
0041888299
-
N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria
-
B. Gebhardt, S. Vlaho, D. Fischer, A. Sewell, and H. Bohles N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria Mol Genet Metabol 79 2003 303 304
-
(2003)
Mol Genet Metabol
, vol.79
, pp. 303-304
-
-
Gebhardt, B.1
Vlaho, S.2
Fischer, D.3
Sewell, A.4
Bohles, H.5
|