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orphanet journal of rare diseases

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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

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
468 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
440 views DOI Abstract
2018
Compounded medication for patients with rare diseases
Dooms, Marc;Carvalho, Maria;
Vol. 13 , No. 1 , pp. 1-8
440 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
438 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
413 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-
383 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
381 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
349 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
344 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
337 views DOI
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