Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. [PDF]
, 1976 R O McKeran, R. W. E. Watts
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Determination of the mutations responsible for the lesch-nyhan syndrome in 17 subjects
, 1991 Susan A. Tarlé +6 more
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HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report
, 2016 Elaine Stur +4 more
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Journal of Rare DiseasesIntroduction Lesch-Nyhan Syndrome (LNS) is a rare X-linked disorder characterized by the triad of hyperuricemia, neurological dysfunction, and compulsive self-injurious behavior, often involving oral self-mutilation.
Flávio de Melo Garcia +5 more
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Effects of glutamine on purine metabolism in the lesch-Nyhan syndrome [PDF]
, 1971 Kari O. Raivio, J. Edwin Seegmiller
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Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]
J Endourol Case Rep, 2020 Meagher MF, Bechis SK.
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Lesch-Nyhan Syndrome with Neurological Symptoms and Nephrocalcinosis [PDF]
Zehra Aydın
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SPONTANEOUS REVERSION AT THE HPRT LOCUS IN CELLS FROM A PATIENT WITH A MILD VARIANT OF THE LESCH-NYHAN SYNDROME [PDF]
, 1984 Arthur S. Aylsworth +2 more
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LESCH NYHAN SYNDROME- UNUSUAL PRESENTATION- A CASE REPORT
, 2020 ijar +3 more
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