Aim & Scope
The official journal of Orphanet, the international portal for rare diseases and orphan drugs, Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews solicited from experts in the field and also considers research on rare diseases and results of clinical trials of exceptional interest. [1]
2024 - VOLUME 19, ISSUE 1
Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course
T Dunne , D Jeffries , L Mckay
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1
0
23
F Fernandes , G Luzuriaga , G da Fonseca , ... , M Simões
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1
0
32
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
M AlSayed , D Arafa , H Al-Khawajha , ... , M Faden
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1
0
69
J Spychalska , M Duńska , A Myślińska , ... , E Głodkowska-Mrówka
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1
0
19
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
S Duan , H Luo , Y Wang , ... , Y Xu
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 1.
2
18
J Malina , EM Huessler , KH Jöckel , ... , S Klebe
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 2.
0
61
B Siri , G Olivieri , FR Lepri , ... , C Dionisi-Vici
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 3.
0
46
M Rose , D Ritter , N Gupta , ... , J Glass
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 4.
0
27
Implementation status of pharmacological studies in the development of orphan drugs.
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 5.
0
17
TY Su , YC Huang , JY Ko , ... , PL Hung
Orphanet Journal of Rare Diseases , 2024 - VOLUME 19, ISSUE 1 , p 6.
0
52
Editorial Retractions, Expressions of Concern and External Notices
Quality of life and depression in Wilson's disease: a large prospective cross-sectional study.
K Chevalier , D Rahli , L de Veyrac , ... , A Poujois
Orphanet Journal of Rare Diseases2023 - VOLUME 18, ISSUE 1 p 168.
1 15
X Xu , R Song , K Hu , ... , Y Sun
Orphanet Journal of Rare Diseases2022 - VOLUME 17, ISSUE 1 p 64.
6 24
JFH Pittaway , C Harrison , Y Rhee , ... , MD Irving
Orphanet Journal of Rare Diseases2018 - VOLUME 13, ISSUE 1 p 47.
10 20
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
F Punzo , AM Bertoli-Avella , S Scianguetta , ... , S Perrotta
Orphanet Journal of Rare Diseases2011 - VOLUME 6, ISSUE 1 p 89.
10 20