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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… Expand
National Institutes of Health

Related topics

Related topics

30 relations
Abnormality of extrapyramidal motor functionAnemiaAnemia, MegaloblasticChoreoathetosis
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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
2018
Review
2018
The Essential Element Manganese, Oxidative Stress, and Metabolic Diseases: Links and Interactions
Manganese (Mn) is an essential element that is involved in the synthesis and activation of many enzymes and in the regulation of… Expand
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Review
2018
Review
2018
Zinc, Magnesium, Selenium and Depression: A Review of the Evidence, Potential Mechanisms and Implications
Micronutrient deficiency and depression are major global health problems. Here, we first review recent empirical evidence of the… Expand
  • table 1
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Highly Cited
2009
Highly Cited
2009
Circadian Clock Feedback Cycle Through NAMPT-Mediated NAD+ Biosynthesis
Circadian Oscillations The 24-hour day-night cycle plays an important role in mammalian physiology and behavior and, as most… Expand
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Review
2007
Review
2007
Nutritional iron deficiency
Iron deficiency is one of the leading risk factors for disability and death worldwide, affecting an estimated 2 billion people… Expand
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Highly Cited
2006
Highly Cited
2006
Selection of housekeeping genes for gene expression studies in human reticulocytes using real-time PCR
BackgroundControl genes, which are often referred to as housekeeping genes, are frequently used to normalise mRNA levels between… Expand
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Review
2004
Review
2004
Breeding for micronutrients in staple food crops from a human nutrition perspective.
Over three billion people are currently micronutrient (i.e. micronutrient elements and vitamins) malnourished, resulting in… Expand
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Highly Cited
1998
Highly Cited
1998
Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies
The complement system plays a paradoxical role in the development and expression of autoimmunity in humans. The activation of… Expand
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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… Expand
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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… Expand
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Highly Cited
1969
Highly Cited
1969
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.
  • K. Mccully
  • The American journal of pathology
  • 1969
    • Corpus ID: 8960278
A transistor amplifier including a bipolar transistor supplied with an input signal and a field effect transistor which is… Expand
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