Hyperuricosuric encephalopathy without hyperuricaemia.
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Tài liệu tham khảo
Catel and Schmidt (1959)
Hoefnagel (1965)
Hoefnagel et al. (1965) Family A M Family B M Jeune et al. (1966)
Laplane et al. (1967)
Lesch and Nyhan (1964) Case A M Case B M Marie et al. (1967) Nyhan et al. (1967)
M Family A M Nyhan et al. (1965)
Family B M M Polonovski et al. (1966)
Balis, M. E., Krakoff, I. H., Berman, P. H., and Dancis, J. (1967). Urinary metabolites in congenital hyperuricosuria. Science, 156, 1122.
Catel, W., and Schmidt, J. (1959). Ober familiare gichtische Diathese in Verbindung mit zerebralen une renalen Symptomen bei einem Kleinkind. Dtsch. med. Wschr., 84, 2145.
Hoefnagel, D. (1965). The syndrome of athetoid cerebral palsy, mental deficiency, self-mutilation and hyperuricemia. J. ment.
Defic. Res., 9, 69. -, Andrew, E. D., Mireault, N. G., and Berndt, W. 0. (1965).
Jeune, M., Hermier, M., Rosenberg, D., Michel, M., Do, Mme., and Collombel, C. (1966). Encephalopathie familiale avec hyperuricemie. Pediatrie, 21, 663.
Laplane, R., Polonovski, C., and Graveleau, D. (1967). Hyperuricemie congenitale a forme cerebro-renale. Arch. franc. Pidiat., 24, 103.
Lesch, M., and Nyhan, W. L. (1964). A familial disorder of uric acid metabolism and central nervous system function. Amer.J. Med., 36, 561.
Marie, J., Royer, P., and Rappaport, R. (1967). Hyperuricemie congenitale avec troubles neurologiques, renaux et sanguins.
Nyhan, W. L. (1965). A disorder of uric acid metabolism and cerebral function in childhood. Arthr. and Rheum., 8, 659.
Nyhan, W. L., Oliver, W. J., and Lesch, M. (1965). A familial disorder of uric acid metabolism and central nervous system function. II. j. Pediat., 67, 257.
Nyhan, W. L., Oliver, W. J., and Lesch, M., Pesek, J., Sweetman, L., Carpenter, D. G., and Carter, C. H. (1967). Genetics of an X-linked disorder of uric acid metabolism and cerebral function. Pediat. Res., 1, 5.
Polonovski, C., Laplane, R., Graveleau, D., Baheux, G., and Sicre, M. C. (1966). Encephalopathie et nephropathie metaboliques par hyperuricemie congenitale. Bull. Soc. Mid. Hop. Paris, 117, 799.
Seegmiller, J. E., Grayzel, A. I., Laster, L., and Liddle, L. (1961). Uric acid production in gout. J. clin. Invest., 40, 1304.