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Rare Diseases Day 2013

Rare Diseases Day 2013 raises awareness of rare diseases and their impact on the daily lives of patients and their families all over the world. This series highlights the research published in Orphanet Journal of Rare Diseases and Parasites & Vectors on some of the genetic and infectious rare diseases that affect humans.

  1. Research

    Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

    Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme r...

    Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf and Carla E M Hollak

    Orphanet Journal of Rare Diseases 2013 8:47

    Published on: 25 March 2013

  2. Research

    Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

    Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information...

    Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas and Fiona M Smith

    Orphanet Journal of Rare Diseases 2013 8:38

    Published on: 28 February 2013

  3. Research

    Cost-effectiveness of enzyme replacement therapy for Fabry disease

    The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease.

    Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst and Marcel GW Dijkgraaf

    Orphanet Journal of Rare Diseases 2013 8:29

    Published on: 19 February 2013

  4. Research

    New clinical and molecular insights on Barth syndrome

    Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TA...

    Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini and Amelia Morrone

    Orphanet Journal of Rare Diseases 2013 8:27

    Published on: 14 February 2013

  5. Research

    Integrated prevalence mapping of schistosomiasis, soil-transmitted helminthiasis and malaria in lakeside and island communities in Lake Victoria, Uganda

    It is widely advocated that integrated strategies for the control of neglected tropical diseases (NTDs) are cost-effective in comparison to vertical disease-specific programmes. A prerequisite for implementati...

    Narcis B Kabatereine, Claire J Standley, Jose C Sousa-Figueiredo, Fiona M Fleming, J Russell Stothard, Ambrose Talisuna and Alan Fenwick

    Parasites & Vectors 2011 4:232

    Published on: 13 December 2011

  6. Research

    Lymphatic filariasis in the Democratic Republic of Congo; micro-stratification overlap mapping (MOM) as a prerequisite for control and surveillance

    The Democratic Republic of Congo (DRC) has a significant burden of lymphatic filariasis (LF) caused by the parasite Wuchereria bancrofti. A major impediment to the expansion of the LF elimination programme is the...

    Louise A Kelly-Hope, Brent C Thomas, Moses J Bockarie and David H Molyneux

    Parasites & Vectors 2011 4:178

    Published on: 18 September 2011

  7. Short report

    Zoonoses and marginalised infectious diseases of poverty: Where do we stand?

    Despite growing awareness of the importance of controlling neglected tropical diseases as a contribution to poverty alleviation and achieving the Millennium Development Goals, there is a need to up-scale progr...

    David Molyneux, Zuhair Hallaj, Gerald T Keusch, Donald P McManus, Helena Ngowi, Sarah Cleaveland, Pilar Ramos-Jimenez, Eduardo Gotuzzo, Kamal Kar, Ana Sanchez, Amadou Garba, Helene Carabin, Amal Bassili, Claire L Chaignat, Francois-Xavier Meslin, Hind M Abushama…

    Parasites & Vectors 2011 4:106

    Published on: 14 June 2011