نتایج جستجو برای: nyhan syndrome
تعداد نتایج: 622040 فیلتر نتایج به سال:
Lesch-Nyhan 증후군은 성염색체 열성 유전질환으로, 퓨린 (purine) 대사 과정중 구제 및 재순환에 관여하는 효소인 hypoxanthine-guanine phosphoribosyl transferase(HPRT)의 완 전 결핍으로 인한 고요산혈증, 무도성 무정위운동(choreoathetosis), 연축성(spasticity), 정신지체, 강박적인 자해 행위 등의 임 상 증상들을 특징으로 하는 대사 이상 질환이다 1) . 1964년 Lesch와 Nyhan 1) 에 의해 특징적인 상기 증상을 보인 형제의 증례가 처음 보고되었고, 1967년 Seegmiller 등 2) 에 의하 여 이 병의 원인이 효소 HPRT의 완전 결핍으로 인한 것임이 밝혀졌다. 이후 분자유전학 기술의 발달로 HPRT 유전자가...
Thioguanine-resistant T lymphoblast populations were selectively amplified using T cell growth factor in the cultures of peripheral blood T cells from four Lesch-Nyhan heterozygotes. Although Lesch-Nyhan T lymphoblasts were all thioguanine-resistant, none of the cultures from 13 control subjects yielded the growth of such defective cell populations. These data provide direct evidence for the ex...
BACKGROUND The Lesch-Nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). CASE REPORT In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, Germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history...
We postulated that adenosine function could be related to some of the neurological features of Lesch-Nyhan syndrome and therefore characterized adenosine transport in PBLs (peripheral blood lymphocytes) obtained from Lesch-Nyhan patients (PBL(LN)) and from controls (PBL(C)). Adenosine transport was significantly lower in PBL(LN) when compared with that in PBL(C) and a significantly lower number...
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