Journal Report

Orphanet Journal of Rare Diseases

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Journal Information
Journal Title
Orphanet Journal of Rare Diseases
Publisher
BioMed Central Ltd
ISSN
1750-1172
E-ISSN
Database
SCOPUS
Domain
Health Sciences, Life Sciences, Social Sciences
Classification History
Year A+ A B C
2026
2025
2024 ✓
2023 ✓
2021/2022 ✓ ✓
2020 ✓
2019 ✓ ✓
2018 ✓
A journal may have more than one classification in the same year. All recorded classifications are displayed.
Recent Articles
Phenotypic spectrum and diagnostic evolution in GLUT1 deficiency syndrome: a single-centre adult cohort experience
Alastair Paterson, Kevin Kuriakose, Nour Elkhateeb et al.
2026-11-6
DOI: 10.1186/s13023-026-04703-w
Validation of the 7-day FABPRO-GI questionnaire in Turkish Fabry disease patients
Seyda Gul Ozcan, Necmi Eren, Melis Atakan et al.
2026-11-6
DOI: 10.1186/s13023-026-04694-8
Immunofluorescence mapping vs. electron microscopy in epidermolysis bullosa: comparative retrospective study in 84 genetically confirmed patients
Wei Melbourne, Nicole Tomas, Dimitar Krastev et al.
2026-11-6
DOI: 10.1186/s13023-026-04595-w
Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network
Ellenore M. Martin, Madeleine Harris, Tegan Stait et al.
2026-11-5
DOI: 10.1186/s13023-026-04698-4
A home for rare disease: the creation of the NORD centers of excellence
Amel Karaa, Rachel M. Bailey, James C. Cloyd et al.
2026-11-5
DOI: 10.1186/s13023-026-04692-w
Overlooked brain injury manifesting as diplopia in Wilson disease
Shu-Pei Jia, Wen-Ming Yang, Mei-Xia Wang et al.
2026-11-4
DOI: 10.1186/s13023-026-04690-y
Patient-reported experiences of people living with a rare disease with secondary and tertiary care: a scoping review
Rita Francisco, Michel Wensing, Jennifer Jones et al.
2026-11-4 Vol. 21 Issue 1
DOI: 10.1186/s13023-026-04368-5
Patient perspectives on European Reference Networks: supporting a flagship initiative through lived experience
José Ángel Aibar
2026-11-4
DOI: 10.1186/s13023-026-04683-x
Living with dystrophic epidermolysis bullosa in Poland: first national study of health-related quality of life and symptom burden
Natalia Bień, Thomas Peric, Łukasz Chętko et al.
2026-11-4
DOI: 10.1186/s13023-026-04680-0
Letter to the Editor in response to article: Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team
Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring et al.
2026-11-3
DOI: 10.1186/s13023-026-04686-8
Articles retrieved from Crossref.
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Printed: November 7, 2026 20:00