Results 11 to 20 of about 5,487 (231)

Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report [PDF]

Journal of Dental School, 2021
Objectives Lesch-Nyhan syndrome is a rare inherited disorder associated with self-harming behaviors, delayed mental and motor development, and disturbances such as dysarthria, choreoathetosis, and spasticity.
Soodeh Tahmasbi, Fatemeh Mohamadian, Shiva Tavakol Davani, Leila Eftekhar   +3 more
doaj   +3 more sources

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 [PDF]

Frontiers in Genetics, 2023
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS).
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni   +5 more
doaj   +2 more sources

Lesch-Nyhan Syndrome

Nanagiri A, Shabbir N.
europepmc   +4 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, Valerii Chornyi, Ihor Yevstihnieiev, Ihor Hutnik, Oleksandra Smolianova, Nataliia Romuz, Kateryna Esterkina, Kateryna Pervieieva   +7 more
doaj   +3 more sources

Lesch-Nyhan Syndrome

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

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series [PDF]

Diagnostics
Background: 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, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +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, Glaser A, Boop S, Durfy S, Hauptman JS.   +4 more
europepmc   +3 more sources

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]

Cureus, 2022
Ferrão J, Rodrigues Barros C, Figueiredo L, Fernandes A.   +3 more
europepmc   +3 more sources

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome [PDF]

Orphanet Journal of Rare Diseases, 2007
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic
Puig Juan G, Torres Rosa J
doaj   +2 more sources

Guanine is an inhibitor of c-jun terminal kinases [PDF]

Scientific Reports
The toxicity of purine bases adenine and guanine is mostly recognized when associated with inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a lifestyle component including gout.
Jessica Treeby, Sherihan El-Sayed, Samuel Morgan, Sophie Maddock, George Taylor, Stacey Warwood, Julian Selley, David Knight, Benjamin Saer, Richard A. Bryce, Jean-Michel Fustin   +10 more
doaj   +2 more sources