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orphanet journal of rare diseases

ISSN 1750-1172· EN

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39.3/100
Journament Score
#9,369
Journament Rank
23
Articles Indexed

About This Journal

Short Name orphanet j rare dis
Abbreviated Name orphanet j rare dis
ISSN 1750-1172
URL https://link.springer.com/journal/13023/volumes-and-issues

Indexings

scopus ncbi ulakbim sci

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Publications Per Year

Articles (23)

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
502 views DOI 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
485 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
471 views DOI Abstract
2018
Compounded medication for patients with rare diseases
Dooms, Marc;Carvalho, Maria;
Vol. 13 , No. 1 , pp. 1-8
471 views 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
446 views DOI 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
437 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-
409 views 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
400 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
380 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
368 views DOI
2021
Real-world evidence on Kovaltry (81-8973) in children with moderate or severe hemophilia A in Europe: a nested cohort analysis
O’Hara, J.
Vol. 16 , pp. 0-0
225 views DOI
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
485 views DOI Abstract
2020
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.
Noor, Farjana Akther;Sultana, Nusrat;Bhuyan, Golam Sarower;Islam, Md Tarikul;Hossain, Mohabbat;Sarker, Suprovath Kumar;Islam, Khaleda;Khan, Waqar Ahmed;Rahman, Mujahida;Qadri, Syeda Kashfi;Shekhar, Hossain Uddin;Qadri, Firdausi;Qadri, Syed Saleheen;Mannoor, Kaiissar;
Vol. 15 , No. 1 , pp. 15
357 views DOI Abstract
2020
European lipodystrophy registry: background and structure.
von Schnurbein, Julia;Adams, Claire;Akinci, Baris;Ceccarini, Giovanni;D'Apice, Maria Rosaria;Gambineri, Alessandra;Hennekam, Raoul C M;Jeru, Isabelle;Lattanzi, Giovanna;Miehle, Konstanze;Nagel, Gabriele;Novelli, Giuseppe;Santini, Ferruccio;Santos Silva, Ermelinda;Savage, David B;Sbraccia, Paolo;Schaaf, Jannik;Sorkina, Ekaterina;Tanteles, George;Vantyghem, Marie-Christine;Vatier, Camille;Vigouroux, Corinne;Vorona, Elena;Araújo-Vilar, David;Wabitsch, Martin;
Vol. 15 , No. 1 , pp. 17
254 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
446 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
471 views DOI 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
368 views DOI
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
400 views DOI 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
437 views DOI Abstract
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
502 views DOI Abstract
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Journament

Overall Quality Score

39.3/100

Tier: Poor

The Journament Overall Quality Score is a comprehensive metric that evaluates academic journals across multiple dimensions including engagement, accessibility, diversity, innovation, and community impact.

This score helps researchers, institutions, and publishers understand the holistic quality and impact of a journal beyond traditional metrics.

Engagement Score

31.1/100

Measures user interactions, views, citations, and community involvement with this journal's content.

Higher engagement scores indicate that the journal's content is actively being read, cited, and discussed within the academic community.

Accessibility Score

35.0/100

Evaluates how easily researchers can access journal content, including open access availability, ISSN registration, and indexing.

This metric considers factors such as paywalls, open access policies, and availability across different academic databases and search engines.

Diversity Score

30.0/100

Assesses geographic and institutional diversity of authors, editorial board composition, and topic breadth.

A diverse journal publishes work from various geographic regions, institutions, and covers a broad range of topics within its field.

Innovation Score

40.0/100

Evaluates research novelty, interdisciplinary work, and emerging topics based on AI analysis of article abstracts.

This score reflects how much the journal publishes cutting-edge research, explores new methodologies, and bridges different academic disciplines.

Community Impact Score

33.5/100

Measures scholarly contribution and real-world applications of published research.

This metric evaluates how the journal's research translates into practical applications, policy changes, and benefits to society beyond academia.

Timeliness Score

50.0/100

Evaluates recent publication activity, publication frequency, and currency of research topics.

Higher scores indicate consistent publishing schedules and timely coverage of current research trends.

Ethics & Transparency Score

0.0/100

Research Integrity (10% weight)

Assesses COPE standards compliance, ethical considerations in research, transparency in methodologies, and reproducibility practices.

This metric ensures the journal maintains high ethical standards and promotes transparent, trustworthy research.

Content Quality Score

0.0/100

Academic Rigor (20% weight) + Methodology Quality (12%)

Evaluates research methodology soundness, statistical rigor, theoretical framework strength, appropriateness of research methods, data quality, and clarity & readability.

This comprehensive metric ensures published research meets the highest academic standards.

Editorial Diversity Score

0.0/100

Author Diversity + Interdisciplinary Value (8%)

Measures geographic diversity of authors, institutional variety, editorial board composition, and cross-disciplinary connections.

Diverse editorial teams bring varied perspectives and reduce bias in academic publishing.

Publication Regularity Score

0.0/100

Assesses consistency of publication schedule, frequency stability, and predictable output patterns.

Regular publication schedules indicate reliable journal operations and consistent workflow management.

Geographic Reach Score

0.0/100

Evaluates international author representation, global readership distribution, and cross-border research collaboration.

Wide geographic reach indicates global impact and international recognition of the journal's research.