نتایج جستجو برای: lesch
تعداد نتایج: 4630 فیلتر نتایج به سال:
[1] According to a recent assessment, it is now possible through medical procedures such as amniocentesis, fetoscopy and ultrasound, to diagnose in utero and with considerable accuracy over 280 abnormalities of pregnancy.1 These abnormalities include a range of fetal genetic disorders (e.g. Down's syndrome, Tay-Sachs disease, Lesch-Nyhan syndrome, spina bifida) which, if left unattended, will r...
Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patient...
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