| LN | Lesch-Nyhan [syndrome]; lipoid nephrosis; Lisch nodule; low necrosis; lupus nephritis; lymph node |
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| LNS | lateral nuclear stratum; Lesch-Nyhan syndrome |
| LNS | Lesch Nyhan syndrome |
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| LN | Lesch--Nyhan |
| Lesch, Michael | <person> U.S. Paediatrician, *1939. See: Lesch-Nyhan syndrome. (05 Mar 2000) |
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| Lesch-Nyhan disease | <syndrome> A sex-linked recessive inherited disease in humans that results from mutation in the gene for the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HGPRT), located on the X chromosome. Results in severe mental retardation. It is characterised by physical and mental retardation, and distressing behavioural abnormalities, such as compulsive self mutilation, hyperuricaemia, and choreoathetosis, and renal failure. Excess uric acid production exists due to the absence of an enzyme essential to purine metabolism. Inheritance: sex-linked recessive. (22 Sep 2002) |
| Lesch-Nyhan syndrome | <syndrome> A sex-linked recessive inherited disease in humans that results from mutation in the gene for the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HGPRT), located on the X chromosome. Results in severe mental retardation. It is characterised by physical and mental retardation, and distressing behavioural abnormalities, such as compulsive self mutilation, hyperuricaemia, and choreoathetosis, and renal failure. Excess uric acid production exists due to the absence of an enzyme essential to purine metabolism. Inheritance: sex-linked recessive. (22 Sep 2002) |
Synonyms : Complete HGPRT Deficiency Disease, Deficiency Disease, Complete HGPRT, Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase, HGPRT Deficiency Disease, Complete, Lesch-Nyhan Disease, Choreoathetosis Self Mutilation Hyperuricemia Syndrome
| Lesch-Nyhan syndrome |
a genetic disorder affecting only men that causes mental handicap, self-mutilation, and aggressive behavior
출처: www.american-depot.com/services/resources_gl_l.asp
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| Lesch-Nyhan syndrome |
This is a rare disease where mental retardation and self mutilation are common.
출처: www.lieberson.com/en/neurgosurgery_glossary/l.htm
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| Lesch-Nyhan syndrome |
Results from congenital deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) - resulting in hyperuricaemia. Causes gout (even in a baby), mental retardation and choreoathetosis.
출처: www.ilar.org/Glossary/Glossary_l.htm
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| Lesch-Nyhan s. |
a rare X-linked disorder of purine metabolism due to deficient hypoxanthine phosphoribosyltransferase, characterized by physical and mental retardation, compulsive self-mutilation of the fingers and lips by biting, choreoathetosis, spastic cerebral palsy, impaired renal function; and by excessive purine synthesis and consequent hyperuricemia and uricaciduria.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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