Latest Article Alert from Orphanet Journal of Rare Diseases

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

Research  

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis

Bonella F, Long X, Ohshimo S, Horimasu Y, Griese M, Guzman J, Kohno N, Costabel U

Orphanet Journal of Rare Diseases 2016, 11 :48 (23 April 2016)

Abstract | Full Text | PDF

Research  

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

de Gussem E, Edwards C, Hosman A, Westermann C, Snijder R, Faughnan M, Mager J

Orphanet Journal of Rare Diseases 2016, 11 :46 (22 April 2016)

Abstract | Full Text | PDF

Research  

Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print

Hamonet C, Frédy D, Lefèvre J, Bourgeois-Gironde S, Zeitoun J

Orphanet Journal of Rare Diseases 2016, 11 :45 (22 April 2016)

Abstract | Full Text | PDF

Review  

Cystinosis: a review

Elmonem M, Veys K, Soliman N, van Dyck M, van den Heuvel L, Levtchenko E

Orphanet Journal of Rare Diseases 2016, 11 :47 (22 April 2016)

Abstract | Full Text | PDF