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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. 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...

    Authors: Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf and Carla E M Hollak
    Citation: Orphanet Journal of Rare Diseases 2013 8:47
    Content type: Research Published on:

  2. 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...

    Authors: 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
    Citation: Orphanet Journal of Rare Diseases 2013 8:38
    Content type: Research Published on:

  4. 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...

    Authors: 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
    Citation: Orphanet Journal of Rare Diseases 2013 8:27
    Content type: Research Published on:

  5. 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...

    Authors: Narcis B Kabatereine, Claire J Standley, Jose C Sousa-Figueiredo, Fiona M Fleming, J Russell Stothard, Ambrose Talisuna and Alan Fenwick
    Citation: Parasites & Vectors 2011 4:232
    Content type: Research Published on:

  6. 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...

    Authors: Louise A Kelly-Hope, Brent C Thomas, Moses J Bockarie and David H Molyneux
    Citation: Parasites & Vectors 2011 4:178
    Content type: Research Published on:

  7. 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...

    Authors: 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…
    Citation: Parasites & Vectors 2011 4:106
    Content type: Short report Published on: