Latest Article Alert from Orphanet Journal of Rare Diseases

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

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research  

Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways

Cai W, Jiang B, Feng T, Xue J, Yang J, Chen Z, Liu J, Wei R, Zhao S, Wang X, Liu S

Orphanet Journal of Rare Diseases 2015, 10 :72 (11 June 2015)

Abstract | Provisional PDF

Research  

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Borgwardt L, Stensland H, Olsen K, Wibrand F, Klenow H, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund A

Orphanet Journal of Rare Diseases 2015, 10 :70 (6 June 2015)

Abstract | Full Text | PDF | PubMed

Research  

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran L, Benko W, van der Knaap M, van Spaendonk R, Wolf N, Bernard G

Orphanet Journal of Rare Diseases 2015, 10 :69 (5 June 2015)

Abstract | Provisional PDF | PubMed