Category Archives: scientific articles

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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A New Step for the Baschirotto Association – The Umbrian Branch is Born

0 in Wed, 30 November 2016, 15:14
On Friday 2 December 2016, at the Hemato-Oncological Research Center (CREO), Rita Levi Montalcini room, of the S. Maria della Misericordia Hospital in Perugia, a conference will be held on the theme “Assistance and Research on rare diseases in Umbria”, in which – in addition to the health workers of all the structures concerned – also patients and their families Continue Reading...
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SPAEN Conference

0 in Tue, 01 October 2013, 16:25
London, 10 – 12 October 2013 A new event in favour of rare diseases. The 4th SPAEN Annual Conference for Organizations Representing Patients With Sarcomas, GIST or Desmoid-Tumors received as a speaker, Dr. Daniela Segat, researcher at the “Mauro Baschirotto” Institute for Rare Diseases. During the conference, which took place the 11 Ottobre 2013 at 14:00, Dr. Segat illustrated the Continue Reading...
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