orphanet journal of rare diseases

Rank: Unranked / 33517
Indexings
scopus ncbi ulakbim sci
Short Name orphanet j rare dis
Abbreviated Name orphanet j rare dis
ISSN 1750-1172
Aim and Scope
URL
Author Instructions

Journal Metrics & Performance

Journament Score: Calculating...

Metrics for this journal are being calculated. This may take some time for comprehensive analysis.

Sign in to manually calculate metrics

Publications Per Year

Recent Articles (23 total)

2019
Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases.
Vanhoorne, V;Peeters, E;Van Tongelen, I;Boussery, K;Wynendaele, E;De Spiegeleer, B;Remon, J P;Vervaet, C;
Vol. 14 , No. 1 , pp. 186
404 views DOI Abstract
2019
Incontinentia pigmenti burden scale: designing a family burden questionnaire.
Taieb, Charles;Hadj-Rabia, Smail;Monnet, Jacques;Bennani, Mohammed;Bodemer, Christine;, ;
Vol. 14 , No. 1 , pp. 271
395 views DOI Abstract
2018
Compounded medication for patients with rare diseases
Dooms, Marc;Carvalho, Maria;
Vol. 13 , No. 1 , pp. 1-8
395 views Abstract
2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua, Jorge A;Guecaimburu Ehuletche, Maria Del Rosario;Perna, Abayuba;Dubrovsky, Alberto;Franca, Marcondes C;Vargas, Steven;Hegde, Madhuri;Claeys, Kristl G;Straub, Volker;Daba, Nadia;Faria, Roberta;Periquet, Magali;Sparks, Susan;Thibault, Nathan;Araujo, Roberto;
Vol. 15 , No. 1 , pp. 11
376 views DOI Abstract
2019
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini, Anna;Quinlivan, Ros;Sansone, Valeria A;Meijer, Ingeborg;Schrijvers, Guus;Tibben, Aad;Padberg, George;de Wit, Maarten;Sterrenburg, Ellen;Mejat, Alexandre;Breukel, Alexandra;Rataj, Michal;Lochmüller, Hanns;Willmann, Raffaella;, ;
Vol. 14 , No. 1 , pp. 126
351 views DOI Abstract
2012
Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Caron, Molster;Leanne, Youngs;Emma, Hammond;Hugh, Dawkins;
Vol. 7 , No. 1 , pp. 50-
336 views Abstract
2019
A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom.
Eljamel, Sana;Ghosh, Wrik;De Stone, Sachin;Griffiths, Annabel;Barrett, Timothy;Thompson, Richard;
Vol. 14 , No. 1 , pp. 185
332 views DOI Abstract
2019
Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis.
Connolly, Mark P;Panda, Saswat;Patris, Julien;Hazenberg, Bouke P C;
Vol. 14 , No. 1 , pp. 220
302 views DOI Abstract
2018
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
Odnoletkova, Irina;Kindle, Gerhard;Quinti, Isabella;Grimbacher, Bodo;Knerr, Viviane;Gathmann, Benjamin;Ehl, Stephan;Mahlaoui, Nizar;Wilder, Philippe Van;Bogaerts, Kris;Vries, Esther de;Taskforce, in collaboration with the Plasma Protein Therapeutics Association (PPTA);
Vol. 13 , No. 1 , pp. 1-17
297 views Abstract
2019
Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research
Solebo, A.
Vol. 14 , pp. 0-0
287 views DOI
View All 23 Articles