Results 11 to 20 of about 5,948 (186)

Description of the Lesch‐Nyhan neurobehavioral disorder and its management through participant observation of three young individuals [PDF]

JIMD Reports, 2020
Background Lesch‐Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine‐guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor disorder and a ...
Anna Bozano, Alessandra Schiaffino, Alessandra Spessa, Francesca Valeriani, Raimondo Mancinelli, Vanna Micheli, Diego Dolcetta   +6 more
doaj   +2 more sources

A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts [PDF]

Molecular Medicine
Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines.
Paula Escudero-Ferruz, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres, José M. López   +6 more
doaj   +2 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

CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease

Stem Cell Research, 2023
Lesch-Nyhan disease (LND) is a X-linked genetic disease affecting boys characterized by complex neurological and neuropsychiatric symptoms. LND is caused by loss of function mutations in the HPRT1 gene leading to decrease activity of hypoxanthine-guanine
Claire Boissart, Laure Chatrousse, Thifaine Poullion, Lina El-Kassar, Karine Giraud-Triboult, Alexandra Benchoua   +5 more
doaj   +1 more source

Reduction of self-mutilating behavior and improved oromotor function in a patient with Lesch-Nyhan syndrome following botulinum toxin injection: A case report

Journal of Pediatric Rehabilitation Medicine, 2021
Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his
Courtney Gilbert, Michelle Sauer, JenFu Cheng   +2 more
doaj   +1 more source

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, LUCY TROMBLEY, MARY GUNDEL, TIMOTHY HUNTER, JANICE A. NICKLAS, MARA LUCIA S. FERREIRA, MARIA JULIA BUGALLO, ANTÔNIO CARLOS FARIAS, ALFREDO LOHR, MERI DIAMANTOPOULOS, SALMO RASKIN   +10 more
doaj   +1 more source

DIFICULTĂŢI DE DIAGNOSTIC ÎN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC [PDF]

Romanian Journal of Pediatrics, 2012
Introducere. Boala Lesch Nyhan este o boală genetică, cu transmitere-X linkată recesivă, a metabolismului purinelor caracterizată prin defi citul de Hipoxantin-Guanin-Fosforiboziltransferază (HPRT) ce duce la hiperproducţie de acid uric.
Ioana Minciu, George Moisa
doaj   +1 more source

Anaesthetic management of a child with Lesch Nyhan syndrome

Indian Journal of Anaesthesia, 2019
Shraya Banerjee, Sunil K Sinha, Preeti G Varshney, Pragya Ahuja   +3 more
doaj   +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, Valerii Chornyi, Ihor Yevstihnieiev, Ihor Hutnik, Oleksandra Smolianova, Nataliia Romuz, Kateryna Esterkina, Kateryna Pervieieva   +7 more
doaj   +1 more source

Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease [PDF]

, 2016
Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides.
AM Geurts, C Tong, CL Wu, D Pelled, DJ Creek, DJ Williamson, E Zoref-Shani, GD Zheng, GH Guibinga, GH Guibinga, GR Breese, HA Jinnah, HA Jinnah, HA Jinnah, HA Simmonds, K Blair, KG Lloyd, M Buehr, M Hooper, M Lesch, M Mazzali, MA Cenci, MG Garcia, MK Dienhart, MR Kuehn, P Li, QL Ying, RJ Torres, S Brosh, S Finger, S Meek, S Meek, S Wolf, SB Dunnett, SL Meddle, SM Downs, SM Downs, TJ Aitman, TP Yang, TP Zwaka, WJ Tax, WL Nyhan, WL Nyhan, X Zheng, Y Chen, Y Yu   +45 more
core   +4 more sources