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1988 1
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Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.
Jankovic J, Caskey TC, Stout JT, Butler IJ. Jankovic J, et al. Ann Neurol. 1988 May;23(5):466-9. doi: 10.1002/ana.410230507. Ann Neurol. 1988. PMID: 2455472
We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. ...This study …
We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch- …
Adrenergic and noradrenergic plasma levels in Lesch-Nyhan disease.
Ernst M, Zametkin AJ, Pascualvaca D, Matochik JA, Eisenhofer G, Murphy DL, Cohen RM. Ernst M, et al. Neuropsychopharmacology. 2000 Mar;22(3):320-6. doi: 10.1016/S0893-133X(99)00119-0. Neuropsychopharmacology. 2000. PMID: 10693160
Noradrenergic dysfunction and abnormality in monoamine oxidase (MAO) enzyme activity have been reported previously in Lesch-Nyhan (LN) disease. This study examines peripheral indices of adrenergic, noradrenergic, and MAO function in children and young adults with LN …
Noradrenergic dysfunction and abnormality in monoamine oxidase (MAO) enzyme activity have been reported previously in Lesch-Nyhan …
Screen for MAOA mutations in target human groups.
Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP. Schuback DE, et al. Am J Med Genet. 1999 Feb 5;88(1):25-8. Am J Med Genet. 1999. PMID: 10050962 Free PMC article.
In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually deviant behavior, as well as normal controls, healthy males, and patients with other diseases (Parkinson disease, Lesch-Nyhan s …
In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually devi …