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23 April 2024 |
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Article overview
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Lesch-Nyhan syndrome: evidence for abnormal adrenergic function | S Rockson
; R Stone
; M Van der Weyden
; W N Kelley
; | Date: |
6 Dec 1974 | Journal: | Science, 186 (4167), 934-5 | 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. | Source: | PubMed, pmid4469689 | Services: | Forum | Review | Favorites |
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