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Issue |
Title |
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Vol 2, No 1 (2015) |
A standard of care for the ultra-rare Marshall-Smith syndrome - developmental process and lessons learned |
Abstract
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Ildikó Vajda, Sonja Bracke |
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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
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Shona Helen Lang, Nigel Armstrong, Caro Noakes, Jos Kleijnen |
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Vol 1: December 2014, Supplement 4 |
Abstracts presented to the EPIRARE International Workshop 24-25 November 2014 |
Abstract
PDF
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Luciano Vittozzi, Marco Salvatore, Domenica Taruscio |
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Vol 1: April 2014, Supplement 2 |
Abstracts presented to the Second International EPIRARE workshop |
Abstract
PDF
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Domenica Taruscio |
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Vol 3, No 2 (2016) |
Audiological profile in osteoporosis |
Abstract
PDF
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Bhavya M |
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Vol 1, No 2 (2014) |
Audiological profile of a patient with MPS type IVA |
Abstract
PDF
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Saransh Jain, Vikas Mysore Dwarakanath, Suman Suresh |
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Vol 3, No 3 (2016) |
Blepharo-Cheilo-Dontic Syndrome. First case in Ecuador. |
Abstract
PDF
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Paola Jacqueline Velez |
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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
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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 |
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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
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Julie Dorey, Duccio Urbinati, Emilie Clay, Julie Brunet, Aimee Aubeeluck, Ferdinando Squitieri |
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Vol 3, No 1 (2016) |
CYSTINOSIS a truly orphan disease - Report of the Cystinosis Foundation India |
Abstract
PDF
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Ravichandran Rajan |
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Vol 3, No 1 (2016) |
Disability evaluation in patients with rare diseases in Spain: the importance of being in accord. BURQOL-RD Project. |
Abstract
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Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada-De-La-Paz, Julio López-Bastida, Pedro Serrano-Aguilar |
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Vol 1, No 1 (2014) |
Editorial |
Abstract
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Domenica Taruscio, Holger Schünemann |
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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
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Vipin Ghosh |
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Vol 2, No 2 (2015) |
Fahr’s disease with epilepsy, deafness, schizophreniform psychosis and autoimmune polymyositis: a case report |
Abstract
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Ekaterina Viteva, Albena Djurkova |
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Vol 2, No 3 (2015) |
Familial case study: a recurrent metabolic disease in a Tunisian family |
Abstract
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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 |
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Vol 3, No 3 (2016) |
Fetal hepatic mesenchymal hamartoma: A case report |
Abstract
PDF
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fatma douik, Ahlem BLEL, Nadia BEN JAMAA, Imen KSIBI, Radhouane ACHOUR, Anas BESBES, Samia Kacem, Soumeya SIALA GAIGI, Aida MASMOUDI |
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Vol 1, No 1 (2014) |
Improving the retrieval and dissemination of rare disease guidelines and research recommendations: a RARE-Bestpractices initiative |
Abstract
PDF
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Michele Hilton Boon, Karen Ritchie, Jan Manson |
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Vol 1, No 2 (2014) |
Informed consent template for patient participation in rare disease registries linked to biorepositories |
Abstract
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Yaffa Reuveni Rubinstein, Barbara Karp, Nicole Lockhart, Christine Grady, Stephen C. Groft |
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Vol 3, No 3 (2016) |
List of rare diseases in Bulgaria |
Abstract
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Eleonora Hristova, Ralitsa Raycheva, Georgi Iskrov, Rumen Stefanov |
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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
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Chuck Layne |
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Vol 1, No 1 (2014) |
Methodology for production of best practice guidelines for rare diseases |
Abstract
PDF
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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 |
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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
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Ralitsa Yordanova, Ivan Ivanov, Margarita Panova, Iglika Sotkova, Fani Galabova, Anelia Petkova, Neviana Ivanova, Irina Tzekova |
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Vol 1, No 4 (2014) |
New Horizons for Centres of Expertise for rare diseases in Bulgaria |
Abstract
PDF
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Eleonora Hristova |
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Vol 1, No 3 (2014) |
Orphan drug considerations in Health Technology Assessment in eight European countries |
Abstract
PDF
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David Tordrup, Victoria Tzouma, Panos Kanavos |
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Vol 3, No 1 (2016) |
Overview of epidemiological registries in Bulgaria |
Abstract
PDF
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Tsonka Miteva-Katrandzhieva |
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