Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
doaj +3 more sources
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing [PDF]
Molecular Therapy: Nucleic Acids, 2023 Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (HPRT1).
Gayoung Jang +8 more
doaj +2 more sources
Red Blood Cells from Individuals with Lesch–Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [PDF]
Antioxidants, 2023 Lesch–Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Julie A. Reisz +5 more
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Pediatric Neurology Briefs, 1988 Five boys with Lesch-Nyhan syndrome and varying degrees of dystonia, chorea, spasticity, ataxia, dysarthria, and mental retardation were studied at the Depts of Neurology and Medicine, Baylor College of Medicine, and Depts of Neurology and Pediatrics ...
J Gordon Millichap
doaj +3 more sources
A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome
Innovaciencia, 2016 Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural ...
Adriana María Gil Zapata +4 more
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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series [PDF]
DiagnosticsBackground: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang +9 more
doaj +2 more sources
Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]
Cureus, 2023 Baird-Daniel E +4 more
europepmc +3 more sources
Lesch-nyhan syndrome in an Indian child
Indian Journal of Dermatology, 2015 Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation.
Priyanka Chandekar +3 more
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A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report [PDF]
Bulletin of the National Research CentreIntroduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky +3 more
doaj +4 more sources
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]
J Genet Couns, 2022 Zhang T +4 more
europepmc +3 more sources