Abstract
The inborn errors of metabolism have caught the imagination of physicians and scientists due to their promise of insights into the mechanisms of both the pathogenesis of genetic disease and gene action itself. The etiologic agent of these disorders is the mutant gene. In this Symposium, attention is focused chiefly upon the mechanism by which the mutant gene produces clinical manifestations.
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References
J. J. Nora, F. C. Fraser, “Medical Genetics: Principle and Practice”, 2nd. Ed. Lea and Febiger, Philadelphia, USA, (1981).
J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, “The metabolic basic of inherited disease”, 4th. Ed., Mc Graw-Hill Book Co., New York, (1978).
A. E. Emery, D. L. Rimoin, “Principle and practice of medical genetics”, Churchill Livngstone, Edinburgh, (1983).
A. Velázquez, F. Montiel, K. N. F. Shaw, A. Carnevale, V. del Castillo, Enfermedad de orina de jarabe de arce heterogeneidad genética, diagnóstico de heterocigotos y un nuevo enfoque terapéutico, Rev. Invest. Clin, (mex), 32: 273, (1981).
C. R. Scriver, S. Mackenzie, C. L. Clow, E. Delvin, Thiamineresponsive maple syrup urine disease, Lancet 1: 310, (1971).
I. Ando, W. G. Klinberg, K. ward An Rasnussen, W. Nyhan, Isovaleric acidemia presenting with altered metabolism of glycine, Pediat. Res., 5: 478, (1971).
C. Mitoma, R. M. Auld, S. Udenfriend, On the nature of enzymic defect in phenypyruvic oligophrenia, Proceding of the Society for, Experimental Biology and Medicine, 94: 634, (1957).
A. Carnevale, A. Veiázquez, F. Ruiz, V. del Castillo, El manejo en México de pacientes con fenilcetonuria, Bol. Med. Hosp. Inf. Mex., 36: 375, (1979).
W. L. Nyhan, Understanding inherited metabolic disease, Clinical Simposia, 32: 3, (1980).
M. A. Sperling, in.: “Birth defects compendium”, 2nd. Ed., edited by Bergsma, New York, A. R. Liss, (1979).
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© 1988 Plenum Press, New York
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Carnevale, A. (1988). Clinical Aspects of Inborn Errors of Metabolism. In: Cañedo, L.E., Todd, L.E., Packer, L., Jaz, J. (eds) Cell Function and Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0813-3_7
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DOI: https://doi.org/10.1007/978-1-4613-0813-3_7
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4612-8095-8
Online ISBN: 978-1-4613-0813-3
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