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  • lesch-nyhan syndrome
    ·¹½¬-³ªÇÑ ÁõÈıº, Lesch-Nyhan ÁõÈıº(¡­ñøý¦ÏØ)
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LN Lesch-Nyhan [syndrome]; lipoid nephrosis; Lisch nodule; low necrosis; lupus nephritis; lymph node
LNS lateral nuclear stratum; Lesch-Nyhan syndrome
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LNS Lesch Nyhan syndrome
LN Lesch--Nyhan
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  • Lesch-Nyhan syndrome
    ·¹½¬ ´ÏÇÑ ÁõÈıº
    ¹Ý¼º À¯Àü ÁúȯÁßÀÇ Çϳª·Î È¿¼Ò°¡ °áÇÌµÇ¾î Æ¯Á¤ ¹°ÁúÀÌ Á¤»óº¸´Ù ¸¹ÀÌ »ý»êµÇ¾î ¹ßº´ÇÑ´Ù. hy
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
Nyhan William L. U.S. Paediatrician, *1926.
See: Lesch-Nyhan syndrome.
(05 Mar 2000)
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Sakati-Nyhan syndrome Congenital malformation in which oxycephaly, brachysyndactyly of hand, and preaxial polydactyly of feet are associated with mental retardation; it is usually inherited as an autosomal recessive trait but there is also a dominant form.
Synonym: Carpenter's syndrome, Goodman's syndrome, Noack's syndrome, Sakati-Nyhan syndrome.
(05 Mar 2000)
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)
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