Agosto 1, 2010

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)

PublicacionesPor SEGCD Agosto 1, 2010

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

The importance of rare diseases: from the gene to society

PublicacionesPor SEGCD Agosto 1, 2010

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

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

PublicacionesPor SEGCD Agosto 1, 2010

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Hum Mutat. 2010 Aug;31(8):E1587-93

Archivo diario: Agosto 1, 2010

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)

The importance of rare diseases: from the gene to society

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia