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Orphanet Journal of Rare Diseases

JournalCitation impact & published research

Orphanet Journal of Rare Diseases is a journal indexed in ScholarIQ from OpenAlex. ScholarIQ records 5,424 works, 187,132 citations, an h-index of 180 and an APC (USD) of 2,790.

5,424
Works
187,132
Citations
180
h-index
2,790
APC (USD)

What are the most-cited papers on Orphanet Journal of Rare Diseases?

ScholarIQmost cited works
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Ingrid E.C. Verhaart, Agata Robertson, Ian Wilson, Annemieke Aartsma‐Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Orphanet Journal of Rare Diseases. 2017730 CitationsOPEN ACCESS
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani
Orphanet Journal of Rare Diseases. 2014728 CitationsOPEN ACCESS
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi‐Vici
Orphanet Journal of Rare Diseases. 2012634 CitationsOPEN ACCESS
Systemic lupus erythematosus
Jessica Manson, Anisur Rahman
Orphanet Journal of Rare Diseases. 2006604 CitationsOPEN ACCESS
The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review
Steve Ryder, Regina Leadley, Nigel Armstrong, Marie Westwood, Shelley de Kock, Thomas Butt, Mansi Jain, Jos Kleijnen
Orphanet Journal of Rare Diseases. 2017540 CitationsOPEN ACCESS

Related on ScholarIQ

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Paper
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Paper
Suggested guidelines for the diagnosis and management of urea cycle disorders
Paper
Systemic lupus erythematosus
Paper
The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review
Paper
Congenital hyperinsulinism: current trends in diagnosis and therapy
Paper
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