| Issue | Title | |
| Vol 2, No 1 (2015) | A standard of care for the ultra-rare Marshall-Smith syndrome - developmental process and lessons learned | Abstract PDF |
| Ildikó Vajda, Sonja Bracke | ||
| Vol 1, No 2 (2014) | A systematic review to evaluate the effectiveness of enzyme replacement therapy for lysosomal storage disorders in comparison to the treatment of similar diseases with higher prevalence | Abstract PDF |
| Shona Helen Lang, Nigel Armstrong, Caro Noakes, Jos Kleijnen | ||
| Vol 1: December 2014, Supplement 4 | Abstracts presented to the EPIRARE International Workshop 24-25 November 2014 | Abstract PDF |
| Luciano Vittozzi, Marco Salvatore, Domenica Taruscio | ||
| Vol 1: April 2014, Supplement 2 | Abstracts presented to the Second International EPIRARE workshop | Abstract PDF |
| Domenica Taruscio | ||
| Vol 3, No 2 (2016) | Audiological profile in osteoporosis | Abstract PDF |
| Bhavya M | ||
| Vol 1, No 2 (2014) | Audiological profile of a patient with MPS type IVA | Abstract PDF |
| Saransh Jain, Vikas Mysore Dwarakanath, Suman Suresh | ||
| Vol 3, No 3 (2016) | Blepharo-Cheilo-Dontic Syndrome. First case in Ecuador. | Abstract PDF |
| Paola Jacqueline Velez | ||
| Vol 1, No 2 (2014) | Bone marrow transplant for a boy with alpha-mannosidosis illustrates a family’s decision-making in rare diseases | Abstract PDF |
| Clara van Karnebeek, Mary Dunbar, Jeff Davis, Kristin Bowden, Kevin Chaplin, Robin Chaplin, Dina McConnell, Paul Moxham, Millan S. Patel, Paul Steinbok, Hilary Vallance, Sylvia Stockler | ||
| Vol 2, No 2 (2015) | Burden and drivers of health-related quality of life among French and Italian caregivers of Huntington’s disease patients | Abstract PDF |
| Julie Dorey, Duccio Urbinati, Emilie Clay, Julie Brunet, Aimee Aubeeluck, Ferdinando Squitieri | ||
| Vol 3, No 1 (2016) | CYSTINOSIS a truly orphan disease - Report of the Cystinosis Foundation India | Abstract PDF |
| Ravichandran Rajan | ||
| Vol 3, No 1 (2016) | Disability evaluation in patients with rare diseases in Spain: the importance of being in accord. BURQOL-RD Project. | Abstract PDF |
| Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada-De-La-Paz, Julio López-Bastida, Pedro Serrano-Aguilar | ||
| Vol 1, No 1 (2014) | Editorial | Abstract PDF |
| Domenica Taruscio, Holger Schünemann | ||
| Vol 3, No 2 (2016) | Effects of Intratympanic Gentamicin Treatement on Hearing and Vestibular Functions in a Case with Symptoms of Meniere’s Disease | Abstract PDF |
| Vipin Ghosh | ||
| Vol 2, No 2 (2015) | Fahr’s disease with epilepsy, deafness, schizophreniform psychosis and autoimmune polymyositis: a case report | Abstract PDF |
| Ekaterina Viteva, Albena Djurkova | ||
| Vol 2, No 3 (2015) | Familial case study: a recurrent metabolic disease in a Tunisian family | Abstract PDF |
| Nadia Ben Jamaa, Tanya Kitova, Moez Ben Amara, Denis Milkov, Dorra Zghal, Sami Jabnoun, Mohamed Yacoubi, Mahdi Khila, Imen Kessibi, Samia Kacem, Faouzia Zouari, Soumeya Siala-Gaigi, Aida Masmoudi | ||
| Vol 3, No 3 (2016) | Fetal hepatic mesenchymal hamartoma: A case report | Abstract PDF |
| fatma douik, Ahlem BLEL, Nadia BEN JAMAA, Imen KSIBI, Radhouane ACHOUR, Anas BESBES, Samia Kacem, Soumeya SIALA GAIGI, Aida MASMOUDI | ||
| Vol 1, No 1 (2014) | Improving the retrieval and dissemination of rare disease guidelines and research recommendations: a RARE-Bestpractices initiative | Abstract PDF |
| Michele Hilton Boon, Karen Ritchie, Jan Manson | ||
| Vol 1, No 2 (2014) | Informed consent template for patient participation in rare disease registries linked to biorepositories | Abstract PDF |
| Yaffa Reuveni Rubinstein, Barbara Karp, Nicole Lockhart, Christine Grady, Stephen C. Groft | ||
| Vol 3, No 3 (2016) | List of rare diseases in Bulgaria | Abstract PDF |
| Eleonora Hristova, Ralitsa Raycheva, Georgi Iskrov, Rumen Stefanov | ||
| Vol 4, No 1 (2017): Vol 4, No 1 (2017) | Methodologies to objectively assess gait and postural control features in Rett syndrome - With a comment on specific challenges and how to address them | Abstract PDF |
| Chuck Layne | ||
| Vol 1, No 1 (2014) | Methodology for production of best practice guidelines for rare diseases | Abstract PDF |
| Thomas Sejersen, Cinzia Del Giovane, Graziella Filippini, Carlo Giacomo Leo, Joerg J Meerpohl, Pierpaolo Mincarone, Silvia Minozzi, Sabina Saverio, Schünemann Holger, Juliette Senecat, Domenica Taruscio, RARE-Bestpractices consortium | ||
| Vol 1, No 4 (2014) | Neurodevelopmental profile at 5 years of a boy with Dravet syndrome– like phenotype: Does SCN1A gene have something in common? | Abstract PDF |
| Ralitsa Yordanova, Ivan Ivanov, Margarita Panova, Iglika Sotkova, Fani Galabova, Anelia Petkova, Neviana Ivanova, Irina Tzekova | ||
| Vol 1, No 4 (2014) | New Horizons for Centres of Expertise for rare diseases in Bulgaria | Abstract PDF |
| Eleonora Hristova | ||
| Vol 1, No 3 (2014) | Orphan drug considerations in Health Technology Assessment in eight European countries | Abstract PDF |
| David Tordrup, Victoria Tzouma, Panos Kanavos | ||
| Vol 3, No 1 (2016) | Overview of epidemiological registries in Bulgaria | Abstract PDF |
| Tsonka Miteva-Katrandzhieva | ||
| 1 - 25 of 46 Items | 1 2 > >> | |
Information
The Rare Diseases and Orphan Drugs Journal has received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under Grant Agreement № 305690: RARE-Bestpractices project: www.rarebestpractices.eu. Sole responsibility lies with the authors and the European Comission is not responsible for any use that may be made of the information contained therein.
