Search Log in
Rare Disease and Orphan Drugs Journal
Open Access  ISSN: 2771-2893 (Online)   Editor-in-Chief: Daniel Scherman
Indexing: Dimensions, Lens,
MPT: 96 days
Home Articles Special Issues Volumes Webinars Videos
Home Articles Special Issues Volumes Webinars Videos
It has reached the top

Most Cited Papers In Last Two Years

Search Filter

Sort by
Article Type
Special Issue Article
Countries/Regions
Search for
Articles Showing 17 results
Sort by
Open Access Original Article
Available online: 29 Dec 2022
Open Access Original Article

Burden of cerebral adrenoleukodystrophy on affected children and their families through the eyes of family caregivers

DOI: 10.20517/rdodj.2022.13
Caroline Sevin, ... Marieke Podevin
Available online: 29 Dec 2022
Open Access Editorial
Available online: 26 Dec 2022
Open Access Editorial

The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease

DOI: 10.20517/rdodj.2022.26
Brice KorkmazBrice Korkmaz, ... Celia Moss
This article belongs to the Special Issue Topic: Neutrophil Serine Proteases in Rare Diseases
Available online: 26 Dec 2022
Open Access Review
Available online: 8 Dec 2022
Open Access Review

Targeting neutrophil serine proteinases in alpha-1 antitrypsin deficiency

DOI: 10.20517/rdodj.2022.18
Celine H. Chen, Robert A. StockleyRobert A. Stockley
This article belongs to the Special Issue Topic: Neutrophil Serine Proteases in Rare Diseases
Available online: 8 Dec 2022
Open Access Conference Report
Available online: 10 Jul 2022
Open Access Conference Report

Foundation for Rare Diseases Annual Scientific Conference: Colloque Scientifique Annuel 2022

DOI: 10.20517/rdodj.2022.10
Fondation Maladies Rares
Available online: 10 Jul 2022
Open Access Editorial
Available online: 3 Jul 2022
Open Access Editorial

Enzyme replacement therapy: current challenges and drug delivery prospects via extracellular vesicles

DOI: 10.20517/rdodj.2022.09
Amanda K. A. SilvaAmanda K. A. Silva, ... Ibane AbasoloIbane Abasolo
Available online: 3 Jul 2022
Open Access Technical Note
Available online: 7 Jun 2022
Open Access Technical Note

Rare diseases: specific challenges for sustainable accessibility of treatments for patients

DOI: 10.20517/rdodj.2022.08
Lucas Cortial, ... Franck Mouthon
Available online: 7 Jun 2022
Open Access Case Report
Available online: 24 May 2022
Open Access Case Report

Audiological findings in an Indian child with Johanson-Blizzard syndrome: a case report

DOI: 10.20517/rdodj.2022.07
Deena Priya, ... Sharanya S
Available online: 24 May 2022
Open Access Review
Available online: 23 May 2022
Open Access Review

Managing rare diseases: examples of national approaches in Europe, North America and East Asia

DOI: 10.20517/rdodj.2022.02
Lucas Cortial, ... Valérie Trentesaux
Available online: 23 May 2022
Open Access Opinion
Available online: 21 Apr 2022
Open Access Opinion

Enhancing the value of clinical networks for rare diseases

DOI: 10.20517/rdodj.2022.01
Matthew Bolz-Johnson, ... Thomas KennyThomas Kenny
Available online: 21 Apr 2022
Open Access Review
Available online: 8 Apr 2022
Open Access Review

Different E-box binding transcription factors, similar neuro-developmental defects: ZEB2 (Mowat-Wilson syndrome) and TCF4 (Pitt-Hopkins syndrome)

DOI: 10.20517/rdodj.2022.03
Lize Meert, ... Danny HuylebroeckDanny Huylebroeck
Available online: 8 Apr 2022
Open Access Review
Available online: 7 Apr 2022
Open Access Review

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

DOI: 10.20517/rdodj.2022.04
Thomas Kenny, ... Deborah Woodman
Available online: 7 Apr 2022
Open Access Review
Available online: 7 Apr 2022
Open Access Review

Lysosomal storage disorders with neurological manifestations

DOI: 10.20517/rdodj.2021.05
Vikas Munjal, ... Lluis SamaranchLluis Samaranch
Available online: 7 Apr 2022
Open Access Original Article
Available online: 26 Dec 2021
Open Access Original Article

COVID-19 and rare diseases: reflections and recommendations by the International Rare Diseases Research Consortium

DOI: 10.20517/rdodj.2021.03
Chiuhui Mary WangChiuhui Mary Wang, ... Lucia Monaco
Available online: 26 Dec 2021
Open Access Original Article
Available online: 26 Dec 2021
Open Access Original Article

Off-label prescription of medicines: what do we know about the legislation in EU member states?

DOI: 10.20517/rdodj.2021.04
Renske Caminada, ... Violeta Stoyanova-BeninskaVioleta Stoyanova-Beninska
Available online: 26 Dec 2021
Open Access Opinion
Available online: 31 Oct 2021
Open Access Opinion

IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions

DOI: 10.20517/rdodj.2021.02
Virginie Hivert, ... Diego Ardigo
Available online: 31 Oct 2021
Open Access Original Article
Available online: 16 Aug 2021
Open Access Original Article

Patient engagement in healthcare: a preliminary set of measures to evaluate patient engagement in the European Reference Networks

DOI: 10.20517/rdodj.2021.001
Diana Marinello, ... Ines Hernando Martin
Available online: 16 Aug 2021
Open Access Editorial
Available online: 15 Mar 2021
Open Access Editorial

The dynamic and urgent path of rare disease and orphan drug research

DOI: 10.20517/rdodj.2021.01
Daniel Scherman
Available online: 15 Mar 2021
Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
Navigation
Follow Us
Navigation

Committee on Publication Ethics

https://publicationethics.org/members/rare-disease-and-orphan-drugs-journal

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Committee on Publication Ethics

https://publicationethics.org/members/rare-disease-and-orphan-drugs-journal

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/
Privacy Cookies Terms of Service Contact Us
Contact Us
partners@oaepublish.com
Follow OAE
Twitter
Facebook
LinkedIn
YouTube
BiLiBiLi
WeChat
© 2016-2023 OAE Publishing Inc., except certain content provided by third parties