Browse Title Index

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
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