orphanet journal of rare diseases

orphanet journal of rare diseases

Indexed In	scopus ncbi ulakbim MEP: 1.344 Ödeme: 6720 Yılı: 2020 sci
Short Name	orphanet j rare dis
Abbreviated Name	orphanet j rare dis
Publications/Year
ISSN	1750-1172
Aim and Scope
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Top Clicked Bibliographies from Search

2019 Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases. Clicks: 400

2019 Incontinentia pigmenti burden scale: designing a family burden questionnaire. Clicks: 393

2018 Compounded medication for patients with rare diseases Clicks: 390

2020 The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Clicks: 372

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. Clicks: 347

2012 Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases Clicks: 332

2019 A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom. Clicks: 325

2019 Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis. Clicks: 298

2018 The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data Clicks: 293

2019 Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research Clicks: 282