Category Archives: leschnyhan-en

New Scientific Article on Lesch-Nyhan Disease by B.I.R.D.

0 in Fri, 06 August 2021, 09:09
Lesch-Nyhan Disease (LND) is a rare X-linked disorder involving purine metabolism. Its incidence in the population is estimated at 1: 350,000 births and is due to mutations in the HPRT1 gene. In order to better understand the nature of the deletions of this gene, in the scientific study “Detailed Study of HPRT1 Gross Deletions Found in 10 Italian Lesch-Nyhan Families” Continue Reading...
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EUROPEAN GROUP OF LESCH NYHAN SYNDROME FAMILIES

0 in Mon, 27 January 2014, 10:52
Lesch-Nyhan syndrome (LNS) is a serious genetic disorder characterized by hyperuricemia, dystonia, spasticity, choreoathetosis, speech impediments, kidney problems, varying degrees of cognitive impairment and, in particular, on the drive to self-harm that uncontrollable by the characteristic behavior is defined properly as Lesch-Nyhan syndrome. The disease originates by the absence or the low activity of the enzyme hypoxanthine-guanine-phosphoribosyl-transferase (HPRT), which normally Continue Reading...
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