Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Richard CHRISTIE |
Documents disponibles écrits par cet auteur (1)
Faire une suggestion Affiner la recherche
Lesch-Nyhan disease: clinical experience with nineteen patients / Richard CHRISTIE in Developmental Medicine & Child Neurology, 24-3 (June 1982)
[article]
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
in Developmental Medicine & Child Neurology > 24-3 (June 1982) . - p.293-306[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