Results 91 to 100 of about 4,773 (143)
Health Inequalities and People with Learning Disabilities in the UK [PDF]
, 2011 This briefing paper will assist Primary, Acute and Specialist NHS Trusts in fulfilling their responsibilities. In this report we summarise the most recent evidence from the UK on the health status of people with learning disabilities and the determinants
Allerton, Lindsay +3 more
core +1 more source
Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. [PDF]
Antioxidants (Basel), 2023 Reisz JA +5 more
europepmc +1 more source
Regulating Human Gene Therapy [PDF]
, 1985 Scientific developments have moved the public debate on genetic engineering to the issue of human gene therapy. Because so many important societal values must be weighed in deciding which, if any, of the first protocols for human gene therapy should be ...
Areen, Judith C.
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Bulletin of the National Research CentreIntroduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky +3 more
doaj +1 more source
A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome
Innovaciencia, 2016 Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural ...
Adriana María Gil Zapata +4 more
doaj +1 more source
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.
Shafique, Hira, Zafar, Sharjeel
core +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 +4 more
europepmc +1 more source
Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]
J Endourol Case Rep, 2020 Meagher MF, Bechis SK.
europepmc +1 more source
Purine metabolism in cultured endothelial cells [PDF]
, 1980 Gerbes, Alexander L. +4 more
core +1 more source