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  

Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1

Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers Y, Baron C, Belmatoug N

Orphanet Journal of Rare Diseases 2015, 10 :62 (13 May 2015)

Abstract | Provisional PDF

Research  

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients

Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi Y, Suzuki N, Nishino I

Orphanet Journal of Rare Diseases 2015, 10 :61 (13 May 2015)

Abstract | Provisional PDF | PubMed

Research  

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Mizutari K, Mutai H, Namba K, Miyanaga Y, Nakano A, Arimoto Y, Masuda S, Morimoto N, Sakamoto H, Kaga K, Matsunaga T

Orphanet Journal of Rare Diseases 2015, 10 :60 (13 May 2015)

Abstract | Provisional PDF | PubMed