Lesch-Nyhan disease: clinical experience with nineteen patients / Richard CHRISTIE in Developmental Medicine & Child Neurology, 24-3 (June 1982)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 24-3 (June 1982) . - p.293-306 Titre : Lesch-Nyhan disease: clinical experience with nineteen patients Type de document : Texte imprimé et/ou numérique Auteurs : Richard CHRISTIE, Auteur ; William L. NYHAN, Auteur ; Carolyn BAY, Auteur ; Irvin A. KAUFMAN, Auteur ; Bohdan BAKAY, Auteur ; Margaret BORDEN, Auteur Année de publication : 1982 Article en page(s) : p.293-306 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The clinical phenotype in Lesch-Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had hyperuricemia, and the presence of 'orange sand' in the diaper was a prominent early complaint. All had self-mutilative behavior, of which the most characteristic form was biting the fingers or lips. All had the neurological syndrome of spasticity and choreoathetoid involuntary movements. All but one had less-than-normal intelligence. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=529 [article] Lesch-Nyhan disease: clinical experience with nineteen patients [Texte imprimé et/ou numérique] / Richard CHRISTIE, Auteur ; William L. NYHAN, Auteur ; Carolyn BAY, Auteur ; Irvin A. KAUFMAN, Auteur ; Bohdan BAKAY, Auteur ; Margaret BORDEN, Auteur . - 1982 . - p.293-306. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 24-3 (June 1982) . - p.293-306 Index. décimale : PER Périodiques Résumé : The clinical phenotype in Lesch-Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had hyperuricemia, and the presence of 'orange sand' in the diaper was a prominent early complaint. All had self-mutilative behavior, of which the most characteristic form was biting the fingers or lips. All had the neurological syndrome of spasticity and choreoathetoid involuntary movements. All but one had less-than-normal intelligence. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=529

---

1 (1 - 1 / 1)