Results 21 to 30 of about 5,487 (231)

Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome. [PDF]

Cureus
Pan S, Truss A, Hussain S.
europepmc   +3 more sources

Update on Genetic Chorea. [PDF]

Eur J Neurol
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +2 more sources

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]

Frontiers in Genetics
Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng, Haoyang Zheng, Haoyang Zheng, Gui Chen, Gui Chen, Gui Chen, Tingting Wang, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Fang Liu, Fang Liu, Fang Liu, Yuanhong Xu, Yuanhong Xu, Yuanhong Xu   +24 more
doaj   +2 more sources

Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]

PLoS ONE, 2014
Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Ghiabe-Henri Guibinga, Nikki Barron, William Pandori   +2 more
doaj   +2 more sources

Clinical utility gene card for: Lesch-Nyhan syndrome. [PDF]

Eur J Hum Genet, 2011
Torres RJ, Puig JG, Ceballos-Picot I.
europepmc   +3 more sources

Lesch-Nyhan Syndrome [PDF]

, 2020
INSERM
openaire   +3 more sources

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

223 Lesch-Nyhan syndrome: from patient to mouse model [PDF]

J Anim Sci, 2019
Kubekina M, Kalmykov V, Kusov P, Silaeva Y, Deikin A.   +4 more
europepmc   +3 more sources

Lesch-Nyhan syndrome: case brief of a rare disease [PDF]

, 2018
Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Sunil Kumar Agarwalla, Jagatshreya Satapathy   +1 more
openalex   +3 more sources

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