orphanet journal of rare diseases

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scopus ncbi ulakbim MEP: 1.344 Ödeme: 6720 Yılı: 2020 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

Top 10 Most Clicked Articles

2019 Vanhoorne, V, Peeters, E, Van Tongelen, I, Boussery, K, Wynendaele, E, De Spiegeleer, B, Remon, J P, Vervaet, C,

Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases. ,

14: 186
Clicks: 398
2019 Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine, , ,

Incontinentia pigmenti burden scale: designing a family burden questionnaire. ,

14: 271
Clicks: 388
2018 Dooms, Marc, Carvalho, Maria,

Compounded medication for patients with rare diseases ,

13: 1-8
Clicks: 387
2020 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,

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. ,

15: 11
Clicks: 371
2019 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, , ,

"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. ,

14: 126
Clicks: 345
2012 Caron, Molster, Leanne, Youngs, Emma, Hammond, Hugh, Dawkins,

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases ,

7: 50-
Clicks: 326
2019 Eljamel, Sana, Ghosh, Wrik, De Stone, Sachin, Griffiths, Annabel, Barrett, Timothy, Thompson, Richard,

A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom. ,

14: 185
Clicks: 322
2019 Connolly, Mark P, Panda, Saswat, Patris, Julien, Hazenberg, Bouke P C,

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis. ,

14: 220
Clicks: 297
2018 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),

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data ,

13: 1-17
Clicks: 292
2019 Solebo, A.

Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research ,

14: 0-0
Clicks: 281

Certificate of Indexing

This is to certify that

orphanet journal of rare diseases

ISSN: 1750-1172

is being indexed by Journament

Indexing started on: August 20, 2019
Certificate issued on: August 18, 2025
Verification link: https://journament.com/journal/2674

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