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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.
Research
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...
Orphanet Journal of Rare Diseases 2013 8:47
Published on: 25 March 2013
Research
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...
Orphanet Journal of Rare Diseases 2013 8:38
Published on: 28 February 2013
Research
The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease.
Orphanet Journal of Rare Diseases 2013 8:29
Published on: 19 February 2013
Research
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...
Orphanet Journal of Rare Diseases 2013 8:27
Published on: 14 February 2013
Research
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...
Parasites & Vectors 2011 4:232
Published on: 13 December 2011
Research
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...
Parasites & Vectors 2011 4:178
Published on: 18 September 2011
Short report
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...
Parasites & Vectors 2011 4:106
Published on: 14 June 2011
