The importance of rare diseases: from the gene to society
Dodge JA, Chigladze T, Donadieu J, Grossman Z, Ramos F, Serlicorni A, Siderius L, Stefanidis CJ, Tasic V, Valiulis A, Wierzba J. Arch Dis Child. 2010 Aug 12
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First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)
Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Eur J Med Genet. 2010 Aug 10
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. BMC Med Genet. 2010 Sep 22;11:137
Adaptive behaviour in Angelman syndrome: its profile and relationship to age
Gasca CB, Obiols JE, Bonillo A, Artigas J, Lorente I, Gabau E, Guitart M, Turk J. J Intellect Disabil Res. 2010 Nov;54(11):1024-9. doi: 10.1111/j.1365-2788.2010.01331.x. Epub 2010 Sep 20
