Results 21 to 30 of about 7,545 (235)
Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]
Cureus, 2023 Deep brain stimulation (DBS) targeting various locations within the globus pallidus internus (GPi) is emerging as a therapeutic option for patients with medically resistant Lesch-Nyhan syndrome.
Baird-Daniel E +4 more
europepmc +2 more sources
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]
J Genet Couns, 2022 Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine‐guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch–Nyhan syndrome (LNS) and is inherited in an X‐linked recessive manner.
Zhang T +4 more
europepmc +2 more sources
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. [PDF]
Mol Syndromol, 2016 Bell S, Kolobova I, Crapper L, Ernst C.
europepmc +3 more sources
Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]
J Endourol Case Rep, 2020 Background: Lesch-Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and ...
Meagher MF, Bechis SK.
europepmc +2 more sources
LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case
Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021 Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Oleksii Khaniukov +7 more
doaj +2 more sources
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 +4 more sources
Prenatal Diagnosis of Lesch-Nyhan Syndrome
Pediatric Neurology Briefs, 1995 The results of carrier and prenatal diagnosis for Lesch-Nyhan syndrome by carrier testing of 83 women and prenatal analysis of 26 pregnancies are reported from the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj +3 more sources
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
Proceedings of the National Academy of Sciences of the United States of America, 1989 The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT).
Richard A. Gibbs +4 more
openalex +2 more sources
Self-injurious behavior in a young child with lesch-nyhan syndrome
Indian Journal of Psychological Medicine, 2016 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available.
Satyakam Mohapatra, Alok Jyoti Sahoo
doaj +2 more sources