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… (More)
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

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Review
2007
Review
2007
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated… (More)
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2005
2005
Self-mutilation behaviour in Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome (LNS), first described in 1964 by Lesch and Nyhan, is a rare X-linked genetic disorder involving (near… (More)
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Highly Cited
2004
Highly Cited
2004
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Human embryonic stem (ES) cells are pluripotent cells derived from blastocyst-stage embryos. It has been suggested that these… (More)
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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… (More)
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Highly Cited
1989
Highly Cited
1989
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme… (More)
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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… (More)
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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… (More)
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1976
1976
Behavior in the Lesch--Nyhan syndrome.
The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent… (More)
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1971
1971
The Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral… (More)
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Highly Cited
1969
Highly Cited
1969
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.
NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… (More)
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