Stanley G. Rockson, MD

Publication Details

  • LESCH-NYHAN SYNDROME - EVIDENCE FOR ABNORMAL ADRENERGIC FUNCTION SCIENCE Rockson, S., Stone, R., VANDERWE, M., Kelley, W. N. 1974; 186 (4167): 934-935

    Abstract:

    Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma dopamine beta-hydroxylase activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase without self-mutilation do not exhibit these abnormalities of adrenergic function.

    View details for Web of Science ID A1974U773500024

    View details for PubMedID 4469689

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