-
1
-
-
1642481536
-
The hyperinsulinism-hyperammonemia syndrome: Gain-of-function mutations of glutamate dehydrogenase
-
D.B. Dunger. Bristol UK: BioScientifica Ltd
-
Stanley C.A. The hyperinsulinism-hyperammonemia syndrome: gain-of-function mutations of glutamate dehydrogenase. Dunger D.B. Genetic Insights in Paediatric Endocrinology and Metabolism. 2000;23-30 BioScientifica Ltd, Bristol UK.
-
(2000)
Genetic Insights in Paediatric Endocrinology and Metabolism
, pp. 23-30
-
-
Stanley, C.A.1
-
2
-
-
0035030231
-
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory GTP binding domain of glutamate dehydrogenase
-
MacMullen C., Fang J., Hsu B.Y.L., Kelly A., deLonlay-Debeney P., Saudubray J.M., Ganguly A., Smith T.J., Stanley C.A. Hyperinsulinism/ hyperammonemia syndrome in children with regulatory mutations in the inhibitory GTP binding domain of glutamate dehydrogenase. J. Clin. Endocrinol. Metab. 86:2001;1782-1787.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 1782-1787
-
-
MacMullen, C.1
Fang, J.2
Hsu, B.Y.L.3
Kelly, A.4
Delonlay-Debeney, P.5
Saudubray, J.M.6
Ganguly, A.7
Smith, T.J.8
Stanley, C.A.9
-
3
-
-
0035091975
-
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome
-
Hsu B.Y., Kelly A., Thornton P.S., Greenberg C.R., Dilling L.A., Stanley C.A. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J. Pediatr. 138:2001;383-389.
-
(2001)
J. Pediatr.
, vol.138
, pp. 383-389
-
-
Hsu, B.Y.1
Kelly, A.2
Thornton, P.S.3
Greenberg, C.R.4
Dilling, L.A.5
Stanley, C.A.6
-
4
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley C.A., Lieu Y.K., Hsu B.Y., Burlina A.B., Greenberg C.R., Hopwood N.J., Perlman K., Rich B.H., Zammarchi E., Poncz M. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 338:1998;1352-1357.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
5
-
-
0034029974
-
Molecular basis and characterization of the hyperinsulinism/ hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators
-
Stanley C.A., Fang J., Kutyna K., Hsu B.Y., Ming J.E., Glaser B., Poncz M. Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators. Diabetes. 49:2000;667-673.
-
(2000)
Diabetes
, vol.49
, pp. 667-673
-
-
Stanley, C.A.1
Fang, J.2
Kutyna, K.3
Hsu, B.Y.4
Ming, J.E.5
Glaser, B.6
Poncz, M.7
-
6
-
-
0033842369
-
Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: Effect of treatment
-
Huijmans J.G.M., Duran M., DeKlerk J.B.C., Rovers M.J., Scholte H.R. Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment. Pediatrics. 106:2000;596-600.
-
(2000)
Pediatrics
, vol.106
, pp. 596-600
-
-
Huijmans, J.G.M.1
Duran, M.2
Deklerk, J.B.C.3
Rovers, M.J.4
Scholte, H.R.5
-
7
-
-
0030785535
-
A syndrome of congenital hyperinsulinism and hyperammonemia
-
Weinzimer S.A., Stanley C.A., Berry G.T., Yudkoff M., Tuchman M., Thornton P.S. A syndrome of congenital hyperinsulinism and hyperammonemia. J. Pediatr. 130:1997;661-664.
-
(1997)
J. Pediatr.
, vol.130
, pp. 661-664
-
-
Weinzimer, S.A.1
Stanley, C.A.2
Berry, G.T.3
Yudkoff, M.4
Tuchman, M.5
Thornton, P.S.6
-
8
-
-
0029808377
-
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia
-
Zammarchi E., Filippi L., Novembre E., Donati M.A. Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism. 45:1996;957-960.
-
(1996)
Metabolism
, vol.45
, pp. 957-960
-
-
Zammarchi, E.1
Filippi, L.2
Novembre, E.3
Donati, M.A.4
-
9
-
-
0034864167
-
Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients
-
de Lonlay P., Benelli C., Fouque F., Ganguly A., Aral B., Dionisi Vicci C., Touati G., Heinrichs C., Rabier D., Kamoun P., Robert J.J., Stanley C.A., Saudubray J.M. Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatr. Res. 50:2001;353-357.
-
(2001)
Pediatr. Res.
, vol.50
, pp. 353-357
-
-
De Lonlay, P.1
Benelli, C.2
Fouque, F.3
Ganguly, A.4
Aral, B.5
Dionisi Vicci, C.6
Touati, G.7
Heinrichs, C.8
Rabier, D.9
Kamoun, P.10
Robert, J.J.11
Stanley, C.A.12
Saudubray, J.M.13
-
10
-
-
0034886416
-
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome
-
Kelly A., Ng D., Ferry R.J. Jr., Grimberg A., Koo-McCoy S., Thornton P.S., Stanley C.A. Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J. Clin. Endocrinol. Metab. 86:2001;3724-3728.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 3724-3728
-
-
Kelly, A.1
Ng, D.2
Ferry, R.J.Jr.3
Grimberg, A.4
Koo-Mccoy, S.5
Thornton, P.S.6
Stanley, C.A.7
-
11
-
-
0035937256
-
Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation
-
Smith T.J., Peterson P.E., Schmidt T., Fang J., Stanley C.A. Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation. J. Mol. Biol. 23:2001;707-720.
-
(2001)
J. Mol. Biol.
, vol.23
, pp. 707-720
-
-
Smith, T.J.1
Peterson, P.E.2
Schmidt, T.3
Fang, J.4
Stanley, C.A.5
-
12
-
-
0036534464
-
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations
-
Fang J., Hsu B.Y., MacMullen C.M., Poncz M., Smith T.J., Stanley C.A. Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem. J. 363:2002;81-87.
-
(2002)
Biochem. J.
, vol.363
, pp. 81-87
-
-
Fang, J.1
Hsu, B.Y.2
MacMullen, C.M.3
Poncz, M.4
Smith, T.J.5
Stanley, C.A.6
-
13
-
-
0037474212
-
Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets
-
Li C., Najafi H., Daikhin Y., Nissim I.B., Collins H.W., Yudkoff M., Matschinsky F.M., Stanley C.A. Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets. J. Biol. Chem. 278:2003;2853-2858.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 2853-2858
-
-
Li, C.1
Najafi, H.2
Daikhin, Y.3
Nissim, I.B.4
Collins, H.W.5
Yudkoff, M.6
Matschinsky, F.M.7
Stanley, C.A.8
-
14
-
-
0018968098
-
Short term regulation of ureagenesis
-
Stewart P.M., Walser M. Short term regulation of ureagenesis. J. Biol. Chem. 255:1980;5270-5280.
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 5270-5280
-
-
Stewart, P.M.1
Walser, M.2
|