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  

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Giese A, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A

Orphanet Journal of Rare Diseases 2015, 10 :78 (17 June 2015)

Abstract | Provisional PDF

Letter to the Editor  

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

Awad F, Georgin-Lavialle S, Brignier A, Derrieux C, Aouba A, Stankovic-Stojanovic K, Grateau G, Amselem S, Hermine O, Karabina S

Orphanet Journal of Rare Diseases 2015, 10 :76 (16 June 2015)

Abstract | Provisional PDF | PubMed

Review  

Quality of life in patients with Fabry disease: a systematic review of the literature

Arends M, Hollak C, Biegstraaten M

Orphanet Journal of Rare Diseases 2015, 10 :77 (16 June 2015)

Abstract | Provisional PDF | PubMed