Results 101 to 110 of about 5,487 (231)
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
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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
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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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Italian experience with Lesch-Nyhan patients and animal models of the disease
The EuroBiotech Journal, 2017 Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome.
Micheli Vanna, Bertelli Matteo
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The human β-amyloid precursor protein: biomolecular and epigenetic aspects
Biomolecular Concepts, 2015 Beta-amyloid precursor protein (APP) is a membrane-spanning protein with a large extracellular domain and a much smaller intracellular domain. APP plays a central role in Alzheimer’s disease (AD) pathogenesis: APP processing generates β-amyloid (Aβ ...
Nguyen Khue Vu
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Rapid prenatal diagnosis of the Lesch-Nyhan syndrome. [PDF]
, 1977 Dicky Halley, M J Heukels-Dully
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, 1969 It had long been suspected that gout might be a disease of varying origins, but it has only been during the present century that primary or acquired gout and hereditary gout have been clearly defined and differentiated. A considerable number of secondary
Copeman, W. S. C.
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The biochemical and molecular basis of Hypoxanthine-guanine phosphoribosyltransferase deficiency [PDF]
, 1996 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyses the first step in purine salvage. A complete deficiency of the enzyme results in the devastating neurological symptoms of the Lesch-Nyhan syndrome.
Marinaki, Anthony Marin
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Anesthetic Experience of Percutaneous Nephrolithotomy for Renal Calculi in a Patient with Lesch-Nyhan Syndrome - A case report - [PDF]
, 2007 In‐Gu Jun +6 more
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