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Science 20 May 1977:
Vol. 196. no. 4292, pp. 905 - 906
DOI: 10.1126/science.860124
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Articles

Science, Vol 196, Issue 4292, 905-906
Copyright © 1977 by American Association for the Advancement of Science

articles

Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture

CR Lake and MG Ziegler

Patients with Lesch-Nyhan syndrome with virtually no hypoxanthine phosphoribosyltransferase activity demonstrate significantly low plasma activity of dopamine-beta-hydroxylase but normal basal levels of norepinephrine. Under conditions of emotional or postural stress the plasma concentrations of norepinephrine in Lesch-Nyhan patients increased less than in a normal population.


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Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease.
M. Ernst, A. J. Zametkin, J. A. Matochik, D. Pascualvaca, P. H. Jons, K. Hardy, J. G. Hankerson, D. J. Doudet, and R. M. Cohen (1996)
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Plasma Norepinephrine Response to Standing in Patients With Pheochromocytoma or Medullary Carcinoma of the Thyroid.
J. M. Feldman, J. A. Blalock, R. E. Farrell, and S. A. Wells Jr (1979)
Arch Intern Med 139, 81-85
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Plasma Levels of Norepinephrine.
I. J. KOPIN, R. C. LAKE, and M. ZIEGLER (1978)
Ann Intern Med 88, 671-680
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