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Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. De Gregorio L, et al. Among authors: jinnah ha. Mol Genet Metab. 2005 May;85(1):70-7. doi: 10.1016/j.ymgme.2004.11.009. Epub 2005 Feb 17. Mol Genet Metab. 2005. PMID: 15862283
Behavioral aspects of Lesch-Nyhan disease and its variants.
Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. Schretlen DJ, et al. Among authors: jinnah ha. Dev Med Child Neurol. 2005 Oct;47(10):673-7. doi: 10.1017/S0012162205001374. Dev Med Child Neurol. 2005. PMID: 16174310 Free article.
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2006 May;129(Pt 5):1201-17. doi: 10.1093/brain/awl056. Epub 2006 Mar 20. Brain. 2006. PMID: 16549399 Free PMC article. Review.
Serum uric acid and brain ischemia in normal elderly adults.
Schretlen DJ, Inscore AB, Vannorsdall TD, Kraut M, Pearlson GD, Gordon B, Jinnah HA. Schretlen DJ, et al. Among authors: jinnah ha. Neurology. 2007 Oct 2;69(14):1418-23. doi: 10.1212/01.wnl.0000277468.10236.f1. Neurology. 2007. PMID: 17909154
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA. Sampat R, et al. Among authors: jinnah ha. Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981450 Free PMC article.
Levodopa is not a useful treatment for Lesch-Nyhan disease.
Visser JE, Schretlen DJ, Bloem BR, Jinnah HA. Visser JE, et al. Among authors: jinnah ha. Mov Disord. 2011 Mar;26(4):746-9. doi: 10.1002/mds.23478. Epub 2011 Jan 31. Mov Disord. 2011. PMID: 21506156 Free PMC article.
310 results