Latest Article Alert from Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

Research  

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis

Rutten M, Ciet P, van den Biggelaar R, Oussoren E, Langendonk J, van der Ploeg A, Langeveld M

Orphanet Journal of Rare Diseases 2016, 11 :50 (26 April 2016)

Abstract | Full Text | PDF

Research  

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi M, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci M, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R

Orphanet Journal of Rare Diseases 2016, 11 :49 (26 April 2016)

Abstract | Full Text | PDF