Results 101 to 110 of about 1,232,023 (188)

TONGUE INJURIES BY SELF MUTILATION IN LESCH-NYHAN SYNDROME PATIENT: A CASE REPORT

, 2008
Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence or decrease in activity of hypoxanthine guanine phosphoribosyl transferase(HPRT), an enzyme involved in purine metabolism.
이제호, 김성오, 손흥규, 최형준, 최병재   +4 more
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Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome

, 2005
OBJECTIVE: Lesch-Nyhan syndrome is a rare and debilitating condition characterized by dystonia and self-mutilating behavior. In order to shed light on the pathophysiology of dystonia, we report the pallidal electrophysiological activity recorded in two ...
Pralong E, Debatisse, D., Villemure, J. G., Tetreault, M. H., Bloch J, Coubes P, Coubes, P., Pollo, C., Roulet, E., Pollo C, Debatisse D, Roulet E, Bloch, J., Pralong, E., Tétreault MH, Villemure JG   +15 more
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Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes [PDF]

, 1998
Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified.
Goryluk-Kozakiewicz, B., Jezewska, M., Krajewska-Walasek, M., Kubalska, J., Popowska, E, Sulek, A., Pronicka, E., Trembacz, H.   +7 more
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Combined Anteromedial and Posteroventral Radiofrequency Pallidotomy in the Management of Severe Generalized Dystonia and Aggressivity in Lesch-Nyhan Syndrome

Archives of Pediatric Neurosurgery
Background: Lesch-Nyhan syndrome (LNS) is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Luciano Furlanetti, Bernardo Assumpção de Monaco, Fabio Okuda Furokawa, Guilherme Corsaletti Gregório, Jessie Navarro, Ana Tereza di Lorenzo Alho, Bianca Dalmaso, Eduardo Joaquim Lopes Alho   +7 more
doaj   +1 more source

Síndrome de Lesch-Nyhan. Informe de un caso

, 2010
Se describe paciente de 4 años que muestra síndrome de Lesch-Nyhan con manifestación clínica clásica: automutilación, hipertonía, hiperreflexia, espasticidad, convulsiones y retraso mental grave, dificultades con el lenguaje, estado de postración ...
Velázquez López, Dra. Xiomara, Raymond Lobaina, Dr. Héctor   +1 more
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Conservative management of oral self-mutilation in Lesch–Nyhan syndrome enhanced by a digital workflow: a case report

Journal of Rare Diseases
Introduction Lesch-Nyhan Syndrome (LNS) is a rare X-linked disorder characterized by the triad of hyperuricemia, neurological dysfunction, and compulsive self-injurious behavior, often involving oral self-mutilation.
Flávio de Melo Garcia, Lívia de Oliveira Bottura, Fabiana Schmidt de Oliveira, Verônica Caroline Brito Reia, Cristiane Maria da Costa Silva, Paulo Sérgio da Silva Santos   +5 more
doaj   +1 more source

DRUG-INDUCED SELF-BITING IN RODENTS: IMPLICATIONS FOR THE LESCH-NYHAN SYNDROME

, 1980
Self-mutilation is a serious clinical problem. In humans self-mutilation is a characteristic of the Lesch-Nyhan syndrome and the de Lange syndrome. Several common drugs have been reported to produce self-biting in animals.
Mueller, Kathyrne Jean
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ORAL SELF-MUTILATION IN THE LESCH-NYHAN SYNDROME : CASE REPORT

, 1999
Self-injurious behavior is defined as deliberate harm to one's own body without suicidal intent. It usually occurs as head banging or hitting, skin cutting, or finger biting and includes ocular, genital and oral self-mutilation. Lesch-Nyhan syndrome is a
최병재
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Características bioquímicas de la enzima HGPRT en humanos normales y con Lesch-Nyhan :

, 1991
IP 1204-05-054-89v.1. Caracteristicas bioquimicas de la enzima HGPRT en humanosnormales ycon Lesch-Nyhan / Luis Alejandro Barrera -- v.2. Estudio bioquimico y propiedades cineticasdelaenzima hipoxantina guanina fosforribosil transferasa (HGPRT E.C.2.4.8.)
Rodríguez Sanabria, Fernando
core   +1 more source

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. [PDF]

Medicine (Baltimore), 2020
Lee J, Jung SM, Jeon S.
europepmc   +1 more source