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orphanet journal of rare diseases

Indexings	scopus ncbi ulakbim sci
Short Name	orphanet j rare dis
Abbreviated Name	orphanet j rare dis
ISSN	1750-1172
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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

411 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

399 views DOI Abstract

2018

Compounded medication for patients with rare diseases

Dooms, Marc;Carvalho, Maria;

Vol. 13 , No. 1 , pp. 1-8

397 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

378 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

357 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-

338 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

334 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

304 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

302 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

288 views DOI

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