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There are 5806 results for: content related to: Lesch-nyhan variant: Dystonia, ataxia, near-normal intelligence, and no self-mutilation

  1. Lesch-Nyhan Disease: Clinical Experience with Nineteen Patients

    Developmental Medicine & Child Neurology

    Volume 24, Issue 4, August 1982, Pages: 293–306, Richard Christie, Carolyn Bay, Irvin A. Kaufman, Bohdan Bakay, Margaret Borden and William L. Nyhan

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1982.tb13621.x

  2. Genetic Heterogeneity at the Locus for Hypoxanthine‒Guanine Phosphoribosyltransferase

    Ciba Foundation Symposium 48 - Purine and Pyrimidine Metabolism

    Katherine Elliott, David W. Fitzsimons, Pages: 65–81, 2008

    Published Online : 30 MAY 2008, DOI: 10.1002/9780470720301.ch5

  3. Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome

    Pediatrics International

    Volume 38, Issue 1, February 1996, Pages: 36–40, NORIKAZU SHIMIZU, HIROSHI KONOMI, MASATAKA ARIMA and TSUGUTOSHI AOKI

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1996.tb03432.x

  4. Factors in the Pathogenesis of the Brain Damage and Anaemia in the Lesch‒Nyhan Syndrome

    Ciba Foundation Symposium 48 - Purine and Pyrimidine Metabolism

    Katherine Elliott, David W. Fitzsimons, Pages: 83–96, 2008

    Published Online : 30 MAY 2008, DOI: 10.1002/9780470720301.ch6

  5. Effective Behavioral Treatment of Self-biting by a Child with Lesch-Nyhan Syndrome

    Developmental Medicine & Child Neurology

    Volume 29, Issue 4, August 1987, Pages: 536–540, Patrick McGreevy and Mary Arthur

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1987.tb02515.x

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    Self-injurious behaviour in young children with Lesch-Nyhan syndrome

    Developmental Medicine & Child Neurology

    Volume 43, Issue 11, November 2001, Pages: 745–749, Scott Hall, Chris Oliver and Glyn Murphy

    Article first published online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2001.tb00155.x

  7. MONOAMINE OXIDASE ACTIVITY IN NORMAL and LESCH-NYHAN FIBROBLASTS

    Journal of Neurochemistry

    Volume 31, Issue 5, November 1978, Pages: 1247–1254, Susan B. Edelstein, Carmela M. Castiglione and Xandra O. Breakefield

    Article first published online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1978.tb06249.x

  8. Lesch-nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters

    Annals of Neurology

    Volume 23, Issue 5, May 1988, Pages: 466–469, Dr. Joseph Jankovic, Thomas C. Caskey, J. Timothy Stout and Ian J. Butler

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410230507

  9. Purine Biosynthesis in Mutant Mammalian Cells

    Ciba Foundation Symposium 48 - Purine and Pyrimidine Metabolism

    Katherine Elliott, David W. Fitzsimons, Pages: 105–126, 2008

    Published Online : 30 MAY 2008, DOI: 10.1002/9780470720301.ch8

  10. You have free access to this content
    Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease

    Movement Disorders Clinical Practice

    Volume 1, Issue 3, September 2014, Pages: 225–229, Emily M. Goodman, Rosa J. Torres, Juan G. Puig and Hyder A. Jinnah

    Article first published online : 6 JUN 2014, DOI: 10.1002/mdc3.12040

  11. Lesch-Nyhan syndrome: An overview of pharmacologic and molecular genetic aspects

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 2, Issue 3, 1996, Pages: 147–154, Lynelle T. Johnson and Pragna I. Patel

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2779(1996)2:3<147::AID-MRDD5>3.0.CO;2-P

  12. Purine metabolism in female heterozygotes for hypoxanthine–guanine phosphoribosyltransferase deficiency

    European Journal of Clinical Investigation

    Volume 28, Issue 11, November 1998, Pages: 950–957, Puig, Mateos, Torres and Buño

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1365-2362.1998.00392.x

  13. Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families

    Clinical Genetics

    Volume 11, Issue 2, February 1977, Pages: 193–200, I. Willers, K. R. Held, S. Singh and H. W. Goedde

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1977.tb01299.x

  14. Lesch—Nyhan syndrome: Carrier and prenatal diagnosis

    Prenatal Diagnosis

    Volume 15, Issue 4, April 1995, Pages: 329–338, R. L. Alford, J. B. Redman, W. E. O'brien and C. T. Caskey

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970150406

  15. Restraint fading and alternate management strategies to treat a man with Lesch–Nyhan syndrome over a 2 year period

    Behavioral Interventions

    Volume 12, Issue 4, October 1997, Pages: 195–202, Charles Obi

    Article first published online : 21 DEC 1998, DOI: 10.1002/(SICI)1099-078X(199710)12:4<195::AID-BRT178>3.0.CO;2-F

  16. Impaired differentiation of HPRT-deficient dopaminergic neurons: A possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome

    Journal of Neuroscience Research

    Volume 53, Issue 1, 1 July 1998, Pages: 78–85, Jason Yeh, Shuang Zheng and Bruce D. Howard

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4547(19980701)53:1<78::AID-JNR8>3.0.CO;2-G

  17. Behavioral neuropharmacology

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 4, Issue 1, 1998, Pages: 26–35, Andrew W. Zimmerman, H. A. Jinnah and Paula J. Lockhart

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2779(1998)4:1<26::AID-MRDD6>3.0.CO;2-V

  18. Excessive purine synthesis and neurologic dysfunction in children

    Arthritis & Rheumatism

    Volume 13, Issue 6, November/December 1970, Pages: 835–845, L. B. Sorensen, F. Kawahara, D. Chow, P. J. Benke and L. Coben

    Article first published online : 22 NOV 2005, DOI: 10.1002/art.1780130613

  19. CONCENTRATION OF PURINE NUCLEOTIDES IN ERYTHROCYTES OF PATIENTS WITH THE LESCH-NYHAN SYNDROME BEFORE AND DURING ORAL ADMINISTRATION OF ADENINE

    Acta Paediatrica

    Volume 60, Issue 6, November 1971, Pages: 642–646, E. J. P. LOMMEN, G. D. VOGELS, S. P. M. VAN DER ZEE, J. M. F. TRIJBELS and E. D. A. M. SCHRETLEN

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1971.tb07004.x

  20. Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex

    Acta Neurologica Scandinavica

    Volume 81, Issue 2, February 1990, Pages: 184–187, T. Hatanaka, H. Higashino, M. Woo, A. Yasuhara, T. Sugimoto and Y. Kobayashi

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1990.tb00960.x