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Lesch-Nyhan Syndrome

Known as: Juvenile Hyperuricemia Syndrome, X-Linked Primary Hyperuricemias, Hyperuricemia Syndrome, Primary 
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE… 
National Institutes of Health

Related topics

Related topics

30 relations
Abnormality of extrapyramidal motor functionAnemiaAnemia, MegaloblasticChoreoathetosis

Narrower (1)

Lesch-Nyhan Syndrome, Neurologic Variant

Broader (3)

Mental RetardationSyndromecongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Zinc and its importance for human health: An integrative review
Since its first discovery in an Iranian male in 1961, zinc deficiency in humans is now known to be an important malnutrition… 
Highly Cited
2011
Highly Cited
2011
Nicotinamide mononucleotide, a key NAD(+) intermediate, treats the pathophysiology of diet- and age-induced diabetes in mice.
Review
2008
Review
2008
Glucose-6-phosphate dehydrogenase deficiency
Highly Cited
2005
Highly Cited
2005
Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease.
Hyperphosphatemia, calcitriol deficiency, and secondary hyperparathyroidism (SHPT) are common complications of chronic kidney… 
Review
2004
Review
2004
Xanthine oxidoreductase and cardiovascular disease: molecular mechanisms and pathophysiological implications
There is substantial evidence that oxidative stress participates in the pathophysiology of cardiovascular disease. Biochemical… 
Highly Cited
1996
Highly Cited
1996
Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to… 
Highly Cited
1987
Highly Cited
1987
HPRT-deficient (Lesch–Nyhan) mouse embryos derived from germline colonization by cultured cells
Embryonal stem (ES) cell lines, established in culture from peri-implantation mouse blastocysts1–3, can colonize both the somatic… 
Highly Cited
1987
Highly Cited
1987
A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into mice
The human Lesch–Nyhan syndrome is a rare neurological and behavioural disorder, affecting only males, which is caused by an… 
Highly Cited
1985
Highly Cited
1985
The mosaic genome of warm-blooded vertebrates.
Most of the nuclear genome of warm-blooded vertebrates is a mosaic of very long (much greater than 200 kilobases) DNA segments… 
Highly Cited
1967
Highly Cited
1967
Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive… 
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