Orphanet Journal of Rare Diseases

OJRD reviews

Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein:

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook and Hanns Lochmüller
Orphanet Journal of Rare Diseases 2017 12:124
Published on: 4 July 2017

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders
Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee and Kalipada Pahan
Orphanet Journal of Rare Diseases 2017 12:113
Published on: 17 June 2017

Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa
Orphanet Journal of Rare Diseases 2017 12:112
Published on: 15 June 2017

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy
Cara A. Timpani, Alan Hayes and Emma Rybalka
Orphanet Journal of Rare Diseases 2017 12:100
Published on: 25 May 2017

Thalassemias in South Asia: clinical lessons learnt from Bangladesh
Mohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, Shameema Ferdous, Nusrat Nahar, Sazia Islam, Mohammad Arifuzzaman, Mohammad Abdur Razzaque, Rabiul Alam, Sonia Aziz, Hazera Khatun, Abdur Rahim and Manzur Morshed
Orphanet Journal of Rare Diseases 2017 12:93
Published on: 18 May 2017

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis and Kristl G. Claeys
Orphanet Journal of Rare Diseases 2017 12:86
Published on: 11 May 2017

Pseudoxanthoma elasticum
Dominique P. Germain
Orphanet Journal of Rare Diseases 2017 12:85
Published on: 10 May 2017

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles and David A. H. Whiteman
Orphanet Journal of Rare Diseases 2017 12:82
Published on: 2 May 2017

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble and Kaustuv Bhattacharya
Orphanet Journal of Rare Diseases 2017 12:78
Published on: 26 April 2017

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review
S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain and J. Kleijnen
Orphanet Journal of Rare Diseases 2017 12:79
Published on: 26 April 2017