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References
[1.]
C.A. Stanley, Y.K. Lieu, B.Y.L. Hsu, A.B. Burlina, C.R. Greenberg, N.J. Hopwood, et al.
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
N Engl J Med, 338 (1998), pp. 1352-1357
[2.]
P. Of Lonlay, C. Benelli, F. Fouque.
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
Pediatr Res, 50 (2001), pp. 353-357
[3.]
Miki, T. Taki, T. Ohura, H. Kato, M. Yanagisawa, Hayashi.
Novel missense mutations, in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonaemia syndrome.
J Pediatr, 136 (2000), pp. 69-72
[4.]
C.A. Stanley, J. Fang, K. Kutina, B.Y. Hsu, J.E. Ming, B. Glaser, et al.
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene.
Diabetes, 49 (2000), pp. 667-673
[5.]
A.H. The Gharbawy.
Hyperinsulinism/hyperammonemia syndrome: a synopsis.
Mol Gene Metab, 84 (2005), pp. 101-103
[6.]
N. Bahi-Buisson, E. Roze, C. Dionisi, F. Escande, V. Valayannopoulos, F. Feillet, et al.
Neurological aspects of hyperinsulinism-hyperammonemia syndrome.
Dev Med Child Neurol, 50 (2008), pp. 945-949
[7.]
N. Bahi-Buisson, S. The Sabbagh, C. Soufflet, F. Escande, N. Boddaert, V. Valayannopoulos, et al.
Myoclonics absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.
Seizure, 17 (2008), pp. 658-664
[8.]
D.M. Raizen, A. Brooks-Kayal, L. Steinkrauss, G.I. Tennkoon, C.A. Stanley, A. Kelly.
Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.
J Pediatr, 146 (2005), pp. 388-394
[9.]
A. Aynsley-Green, K. Hussain, J. Hall, J.M. Saudubray, C. Nihoul-Fekété, P. Lonlay-Debeney, et al.
Practical management of hyperinsulinism in infancy.
Arch Dis Child Fetal Neonatal, 82 (2000), pp. F98-F107
[10.]
T.J. Smith, T. Schmidt, J. Fang, J. Wu, G. Siuzdak, C.A. Stanley.
The structure of apo human glutamate dehydrogenase details subunit communication and allostery.
Mol Biol, 318 (2002), pp. 765-777
[11.]
C. MacMullen, J. Fang, B.Y.L. Hsu, A. Kelly, P. Lonlay-Debeney, J.M. Saudubray, et al.
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate binding domain of glutamate dehydrogenase.
J Clin Endocrinol Metab, 86 (2001), pp. 1782-1787
[12.]
T. Yorifugi, J. Muroi, A. Uematsu, H. Hiramatsu, T. Momio.
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.
Hum Genet, 104 (1999), pp. 476-479
[13.]
R. Santer, M. Kinner, M. Passarge.
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
Hum Genet, 108 (2001), pp. 66-71
[14.]
V. Pylvanem, A. Pakarinen, M. Knip, J. Isojarvi.
Characterization of insulin secretion in Valproate treated patients with epilepsy.
Epilepsy, 47 (2006), pp. 1460-1464
[15.]
F. Menni, P. Lonlay, C. Sevin.
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
Pediatrics, 107 (2001), pp. 476-479
[16.]
G.H. Malthankar-Phatak, N. Lanerolle, T. Eid, D.D. Spencer, K.L. Behar, S.S. Spencer, et al.
Differential glutamate dehydrogenase (GDH) activity profile in patients with temporal lobe epilepsy.
Epilepsy, 47 (2006), pp. 1292-1299
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