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About 198 results

ALLMedicine™ Lesch-nyhan Disease Center

Research & Reviews  99 results

HPRT1 Disorders - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/lns/

Aug 5th, 2020 - HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) an...

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275668
Proceedings of the National Academy of Sciences of the Un... López JM, Outtrim EL et. al.

May 20th, 2020 - Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested th...

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and toph...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034128
Renal Failure; Ambarsari CG, Cahyadi D et. al.

Jan 27th, 2020 - Background: Lesch-Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.Case report: A 15-year-old male who had be...

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555654
Pharmacotherapy Sabus A, Feinstein J et. al.

Feb 22nd, 2019 - Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language...

Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in ...
https://doi.org/10.1002/jimd.12039
Journal of Inherited Metabolic Disease; Jacomelli G, Baldini E et. al.

Feb 11th, 2019 - Lesch-Nyhan disease (LND) is a rare X-linked genetic disorder, with complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, uric acid (UA), hypoxanthine and xanthine accumulation, and a devastating neurologic syndrome. UA exces...

see more →

Clinicaltrials.gov  99 results

HPRT1 Disorders - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/lns/

Aug 5th, 2020 - HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) an...

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275668
Proceedings of the National Academy of Sciences of the Un... López JM, Outtrim EL et. al.

May 20th, 2020 - Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested th...

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and toph...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034128
Renal Failure; Ambarsari CG, Cahyadi D et. al.

Jan 27th, 2020 - Background: Lesch-Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.Case report: A 15-year-old male who had be...

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555654
Pharmacotherapy Sabus A, Feinstein J et. al.

Feb 22nd, 2019 - Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language...

Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in ...
https://doi.org/10.1002/jimd.12039
Journal of Inherited Metabolic Disease; Jacomelli G, Baldini E et. al.

Feb 11th, 2019 - Lesch-Nyhan disease (LND) is a rare X-linked genetic disorder, with complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, uric acid (UA), hypoxanthine and xanthine accumulation, and a devastating neurologic syndrome. UA exces...

see more →