An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference18 articles.
1. A familial disorder of uric acid metabolism and central nervous system;Lesch;Am J Med,1964
2. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis;Seegmiller;Science,1967
3. Lesch–Nyhan disease;Nyhan,1998
4. The occurance of new mutants in the X-linked recessive Lesch–Nyhan disease;Francke;Am J Hum Genet,1976
5. An improved procedure for detection of hypoxanthine-guanine phosphoribosyl transferase heterozygotes;Page;Clin Chem,1982
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1. Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome;Frontiers in Genetics;2023-01-26
2. Purines and pyrimidines;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
3. Current understanding of Lesch-Nyhan disease and potential therapeutic targets;Expert Opinion on Orphan Drugs;2019-08-08
4. Skewed X inactivation in Lesch–Nyhan disease carrier females;Journal of Human Genetics;2017-09-14
5. The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease;JIMD Reports;2016
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