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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 +1 more
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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
Anaesthetic management of a child with Lesch Nyhan syndrome
Indian Journal of Anaesthesia, 2019 Shraya Banerjee +3 more
doaj +2 more sources
Diagnosis and Treatment of the Lesch-Nyhan Syndrome [PDF]
Pediatric Research, 1972 J.C. Crawhall +2 more
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Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report [PDF]
, 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.
Eftekhar, Leila +3 more
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Paths to functional communication of children with developmental anarthria - case reports
Listy klinicke logopedie, 2022 We introduce the application of alternative and augmentative communication aids in children with combined disabilities and symptomatic speech disorders.
Milada Janoušková +2 more
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A rare case of Lesch-Nyhan syndrome in adulthood [PDF]
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder characterized by hyperuricemia, neurodevelopmental delay, self-mutilation, and gouty arthritis.
Sharjeel Zafar, Hira Shafique
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Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients [PDF]
, 2015 How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol.
BOROUJERDI, Razieh +3 more
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Definitions, 2020 Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid.
Rohit Sharma, Maxwell Frye
semanticscholar +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 +45 more
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