Lesch-Nyhan syndrome
Hernández Nieto, L.
Medicina Clinica 102(18): 699-700
1994
ISSN/ISBN: 0025-7753 PMID: 8028420 Document Number: 424762
Document emailed within 1 workday
Related Documents
Tancredi, F.; Giliberti, P. 1976: The Lesch-Nyhan syndrome Minerva Pediatrica 28(31): 1891-1900Félix Acevedo, D.; Fajardo Ramíerez, C.; Fernández Herrer, E. 1977: Lesch-Nyhan syndrome. Report of a case Boletin Medico del Hospital Infantil de Mexico 34(3): 609-618
Warzok, R.; Schwesinger, G.; Knapp, A.; Seidlitz, F. 1982: Neuropathological findings in Lesch-Nyhan syndrome Zentralblatt für Allgemeine Pathologie U. Pathologische Anatomie 126(1-2): 95-104
Burkhardt, W.C.; Jackson, J.F.; Clement, E.G.; Sherline, D.M. 1978: Prenatal diagnosis of the Lesch-Nyhan syndrome Journal of Reproductive Medicine 21(3): 169-170
Schneider, W. 1979: The Lesch-Nyhan syndrome as a rare cause of hemolytic anemia Acta Medica Austriaca 6(5): 202-203
Vranjesević, D.; Dukić, A.; Drndarski, I. 1989: Lesch-Nyhan syndrome: the differential diagnosis and actual aspects Neurologija 38(4): 359-366
Künzer, W. 1975: New case of Lesch-Nyhan syndrome. Attempt at treatment using adenine Archives Francaises de Pediatrie 32(3): 293
Nieto Barrera, M. 1984: Sex-related neurologic diseases. Hunter's disease. Lesch-Nyhan syndrome Anales Espanoles de Pediatria 21(Suppl 20): 47-50
DeMars, R. 1971: Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells Federation Proceedings 30(3): 944-955
Lee, W.J.; Lee, H.M.; Chi, C.S.; Yang, M.T.; Lin, H.Y.; Lin, W.H. 1995: Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family Zhonghua Yi Xue Za Zhi 56(6): 359-366
Jinnah, H.A.; Langlais, P.J.; Friedmann, T. 1992: Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome Journal of Pharmacology and Experimental Therapeutics 263(2): 596-607
Trubo, R. 1983: Genetic manipulation with retroviruses may lead to Lesch-Nyhan treatment Medical World News 24(20): 9
Lübbe, L.; Rudolph, M.; Scherneck, S.; Zimmermann, W.; Geissler, E. 1983: Immortalization of human Lesch-Nyhan-fibroblasts following infection with Simian virus 40 Archiv für Geschwulstforschung 53(2): 105-113
Hösli, P.; de BPRUYN, C.H.; Oei, T.L. 1974: Development of micro HG-PRT activity assay: preliminary complementation studies with Lesch-Nyhan cell strains Advances in Experimental Medicine and Biology 41: 811-815
O'Neill, J.; Trombley, L.; Gundel, M.; Hunter, T.; Nicklas, J.; De Michelena, M. 2013: Identificación de una nueva mutación como causa del síndrome de Lesch-Nyhan en una familia peruana: utilidad del examen molecular para el consejo genético Revista de Neuro-Psiquiatria 62(1): 20-27
Narbay, G.; Meire, F.; Verloes, A.; Casteels, I.; Devos, E. 1996: Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases Bulletin de la Societe Belge d'Ophtalmologie 261: 65-70
Reichenbach, H.; Hörmann, D.; Theile, H. 1993: A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome Kinderarztliche Praxis 61(4-5): 161-167
Takatsu, T.; Nagao, H.; Uehara, H.; Hanamoto, S.; Tanaka, T. 1976: Wolff-Parkinson-White syndrome--classification and diagnosis of pre-excitation syndrome and Lown-Ganong-Levine syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 34(9): 2768-2787
Verloes, A.; Lesenfants, S.; Philippet, B.; Iyawa, A.; Laloux, F.; Koulischer, L. 1996: Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome Genetic Counseling 7(4): 277-282
Al-Mayouf, S. 2005: The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy Saudi Medical Journal 26(7): 1161; Author Reply 1161-2