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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
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
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
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
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… Expand
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
Highly Cited
1972
Highly Cited
1972
Glucose-6-phosphate dehydrogenase deficiency.
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly… Expand
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
NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… Expand
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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… Expand
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