Referências
Principais artigos
Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570. Resumo
Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. Resumo
Jinnah HA, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar;133(Pt 3):671-89.Texto completo Resumo
Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007 Dec 8;2:48.Texto completo Resumo
Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. Resumo
Fu R, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May;137(Pt 5):1282-303.Texto completo Resumo
Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.Texto completo Resumo
Artigos de referência
1. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570. Resumo
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4. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. Resumo
5. Jinnah HA, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Attenuated variants of Lesch-Nyhan disease. Brain. 2010 Mar;133(Pt 3):671-89.Texto completo Resumo
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12. Fu R, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain. 2014 May;137(Pt 5):1282-303.Texto completo Resumo
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22. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(Pt 5):1201-17.Texto completo Resumo
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54. Taira T, Kobayashi T, Hori T. Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. J Neurosurg. 2003 Feb;98(2):414-6. Resumo
55. Pralong E, Pollo C, Coubes P, et al. Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. Neurophysiol Clin. 2005 Nov-Dec;35(5-6):168-73. Resumo
56. Cif L, Biolsi B, Gavarini S, et al. Antero-ventral internal pallidum stimulation improves behavioral disorders in Lesch-Nyhan disease. Mov Disord. 2007 Oct 31;22(14):2126-9. Resumo
57. Piedimonte F, Andreani JC, Piedimonte L, et al. Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up. Neuromodulation. 2015 Feb;18(2):118-22. Resumo
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60. Tambirajoo K, Furlanetti L, Hasegawa H, et al. Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis. Neuromodulation. 2021 Feb;24(2):380-91. Resumo
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63. Khasnavis T, Torres RJ, Sommerfeld B, et al. A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016 Jul;118(3):160-6. Resumo
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