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

Frequency of the virilising effects of attenuated androgens reported by women with hereditary angioedema

Zotter Z, Veszeli N, Csuka D, Varga L, Farkas H

Orphanet Journal of Rare Diseases 2014, 9 :205 (5 December 2014)

Abstract | Provisional PDF

Research

Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames

Cunha K, Rozza-de-Menezes RE, Andrade RM, Theos A, Luiz RR, Korf B, Geller M

Orphanet Journal of Rare Diseases 2014, 9 :202 (5 December 2014)

Abstract | Provisional PDF

Research

Prognostic implication of morphology, cyclinE2 and proliferation in EBV-associated T/NK lymphoproliferative disease in non-immunocompromised hosts

Ng S, Ohshima K, Selvarajan V, Huang G, Choo S, Miyoshi H, Wang S, Chua H, Yeoh A, Quah T, Koh L, Tan P, Chng W

Orphanet Journal of Rare Diseases 2014, 9 :165 (5 December 2014)

Abstract | Provisional PDF

Review

Proceedings of the fourth international conference on central hypoventilation

Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G, And the European Central Hypoventilation Syndrome Consortium

Orphanet Journal of Rare Diseases 2014, 9 :194 (5 December 2014)

Abstract | Provisional PDF

Review

Establishing medical plausibility in the context of orphan medicines designation in the European Union

Tsigkos S, Mariz S, Llinares J, Fregonese L, Aarum S, Frauke N, Westermark K, Sepodes B

Orphanet Journal of Rare Diseases 2014, 9 :175 (5 December 2014)

Abstract | Provisional PDF