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Bibliografía
[1.]
S. Grisolía, V. Rubio.
Algunos aspectos del ciclo de la urea.
Bioquímica y Biología molecular para posgraduados, pp. 173-180
[2.]
E. Zammarchi, F. Ciani, E. Pasquini, G. Bonocore, V.E. Shih, M.A. Donati.
Neonatal onset of hyperornithinemia-hyperammoniemia- homocitrullinuria syndrome with favorable outcome.
J Pediatr, 131 (1997), pp. 440-443
[3.]
M.L. Batshaw.
Inborn errors of urea synthesis.
Ann Neurol, 35 (1994), pp. 133-141
[4.]
J.V. Leonard.
Urea cycle disorders.
Inborn metabolic diseases, pp. 167-176
[5.]
M.L. Batshaw, M. Michael, A.L. Beaudet, J. Trojak.
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
J Pediatr, 108 (1986), pp. 236-241
[6.]
E.P. Di Magno, J.E. Lowe, P.J. Snodgrass, J.D. Jones.
Ornithine transcarbamylase deficiency. A cause of bizarre behavior in a man.
N Engl J Med, 315 (1986), pp. 744-747
[7.]
M. Msall, M.L. Batshaw, R. Suss, S.W. Brusilow, D.E. Mellits.
Neurologic outcome in children with inborn errors of urea synthesis.
N Engl J Med, 310 (1984), pp. 1500-1505
[8.]
P.C. Rowe, S.L. Newman, S.W. Brusilow.
Natural history of symptomatic partial ornithine transcarbamylase deficiency.
N Engl J Med, 314 (1986), pp. 541-547
[9.]
J. Connelly, D. Cross, J. Gadian, F. Hunter, J. Kirkham, J.V. Leonard.
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
Pediatr Res, 33 (1993), pp. 77-81
[10.]
E.R. Hauser, J.E. Finkelstein, D. Valle, S.W. Brusilow.
Allopurinol- induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.
N Engl J Med, 322 (1990), pp. 1641-1645
[11.]
G. Pintos, M.P. Briones, C. Marchante, P. Sanjurjo, M.A. Vilaseca.
Protocolo para el diagnóstico, tratamiento y seguimiento de los trastornos del ciclo de la urea.
An Esp Pediatr, (1997), pp. 1-8
[12.]
P. Sanjurjo, M. Montejo, M.A. García Cazorla, G. Pintos.
Errores innatos del ciclo de la urea.
Actualidad Nutricional, 24 (1998), pp. 16-21
[13.]
P. Sanjurjo Crespo, M. Saieta Altuna, V. Rubio Zamora, J.M. Prats Viñas, A. Vallo Boado.
El déficit en ornitin-transcarbamilasa: dificultades pronósticas.
An Esp Pediatr, 35 (1991), pp. 407-408
[14.]
N.E. Maestri, D. Clissold, S.W. Brusilow.
Neonatal onset transcarbamylase deficiency: A retrospective analysis.
J Pediatr, 134 (1999), pp. 268-272
[15.]
P. Sanjurjo, J. Rodriguez Soriano.
Management of neonatal citrullinemia.
J Pediatr, 123 (1993), pp. 838-839
[16.]
S.W. Brusilow, A.L. Horwich.
Urea cycle enzymes.
The metabolic and molecular bases of inherited disease, pp. 1187-1232
[17.]
R.M. Neil, N.G. Kennaway, C.A. Hepburn, J.J. Strandholm, M.S. Ramberg.
Citrullinemia: investigation and treatment over a four-year period.
J Pediatr, 85 (1997), pp. 208-214
[18.]
M.L. Batshaw, G.T. Berry.
Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders.
J Pediatr, 118 (1991), pp. 914-917
[19.]
Y. Ohtani, K. Ohyanagi, S. Yammamoto, I. Matsuda.
Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency.
J Pediatr, 112 (1988), pp. 409-414
[20.]
E. Mayatepek, T.W. Kurczynski, C.h.L. Hoppel, W.T. Gunning.
Carnitine deficiency associated with ornithine transcarbamylase deficiency.
Pediatr Neurol, 7 (1991), pp. 196-199
[21.]
C. Renner, A.C. Sewel, K. Bervoets, H. Föster, H. Bölhes.
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
Eur J Pediatr, 154 (1995), pp. 909-914
[22.]
B. Plecko, W. Erwa, B. Wermuth.
Partial N-acetylglutamate synthethase deficiency in a 13-years-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Eur J Pediatr, 157 (1998), pp. 996-998
[23.]
N.E. Maestri, E. Hauser, D. Bartholomew, S.W. Brusilow.
Prospective treatment of urea cycle disorders.
J Pediatr, 119 (1991), pp. 923-928
[24.]
N.E. Maestri, K.D. McGowan, S. Brusilow.
Plasma glutamine concentration: a guide in the management of urea cycle disorders.
J Pediatr, 121 (1992), pp. 259-261
[25.]
S.W. Brusilow, Maestri.
Urea Cycle Disorders: Diagnosis, Pathophisiology, and Therapy.
Adv Pediatr, 43 (1996), pp. 127-170
[26.]
F. Feillet, J.V. Leonard.
Alternative pathway therapy for urea cycle disorders.
J Inher Met Dis, Supl 1 (1998), pp. 101-111
[27.]
M. Summar, J. Pietch, J. Deshpande, G. Schulman.
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammoniemia.
J Pediatr, 128 (1996), pp. 379-382
[28.]
M. Kasahara, T. Kiuchi, K. Uryuhara, Y. Ogura, K. Takakura, H. Egawa, et al.
Treatment of ornithine transcarbamylasa deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program.
J Pediatr Surg, 33 (1998), pp. 1753-1756
[29.]
P.f. Whitington, E.M. Alonso, J.T. Boyle, J.P. Molleston, P. Rosenthal, J.C. Emond, et al.
Liver transplantation for the tratment of urea cycle disorders.
J Inherit Metab Dis, 1 (1998), pp. 112-118
[30.]
D. Rabier, C. Narcy, J. Bardet, P. Parvy, J.M. Saudubray, P. Kamoun.
Arginine remains an Essential Amino Acid after Liver Transplantation in Urea Cycle Enzyme Deficiencies.
J Inh Met Dis, 14 (1991), pp. 277-280
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