Journal Ranking

Unranked

Not Yet Ranked

Quality metrics need to be calculated to establish ranking.

Recent Activity

Page Views (30d) 35

Unique Visitors 35

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
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

416 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

402 views DOI Abstract

2018

Compounded medication for patients with rare diseases

Dooms, Marc;Carvalho, Maria;

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

399 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

381 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

358 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-

343 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

337 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

306 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

303 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

292 views DOI

View All 23 Articles

Overall

Not Rated

Journament