International Journal of Rare Diseases and Disorders is an open access, peer reviewed journal focused to raise awareness of rare diseases among physicians, clinicians and other medical professionals. The journal majorly covers conditions in rare genetic diseases, skin conditions, heart conditions, blood disorders, cancers, pediatric conditions, infectious diseases, and soft tissues.
Journal selectively publishes articles those qualify the thorough peer review process and meet the international standards of scientific publishing. All published articles are made available online as soon they are published without accession barriers. The journal invites original, reviews, cases and other type of articles including but not limited to the areas of allergic and immunologic disorders, benign neoplasms, cancers, cardiac and vascular conditions, endocrine and metabolic disorders, gastroenterologic conditions, hematologic disorders, infectious diseases, musculoskeletal conditions, neurologic conditions, ophthalmologic conditions, pediatric diseases, rheumatologic disorders, skin and soft tissue conditions, etc.
Articles Search by Keyword | Journal title | Author name | DOI
Open Access DOI:10.23937/ijrdd-2017/1710006
Raed Farhat, Marie Claude Pasquet, Sandra Corbani, Andre Megarbane, Alain Kitzis and Veronique Ladeveze
Article Type: Commentray | First Published: January 26, 2019
The history of Lebanon, characterized by flows of different ethnic groups, has enabled the introduction of new genes and a wide variety of genetic diseases. The early development of medical services in Lebanon has facilitated the detection of many inherent disorders. CF figures among the 184 reported genetic diseases of the Lebanese population. Even though no epidemiological studies were performed to determine the CF incidence in Lebanon, multiple factors advocate that it could be relatively hig...
Open Access DOI:10.23937/ijrdd-2017/1710005
Mark Nuijten, Hans Joerg Fugel and Jan Vis
Article Type: Research Article | First Published: December 19, 2018
The current policy for price negotiations on high prices of orphan drugs in Europe is neither a transparent nor a structural solution for reimbursement decisions for orphan drugs. In a previous paper, we proposed the Discounted Cash Flow model as an alternative assessment methodology for the price of innovative drugs including the investor's perspective. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ...
Open Access DOI:10.23937/ijrdd-2017/1710004
Article Type: Case Report | First Published: July 11, 2018
Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs including the eye....
Open Access DOI:10.23937/ijrdd-2017/1710003
SJ Winceslaus, Venkateshwaran Sivaraj, Julia Hall and Ramsay Singer
Article Type: Case Report | First Published: April 21, 2018
The expectation that the introduction of modern cART against HIV, leading to viral suppression and functional cure, would also herald complete immunological recovery has not materialised. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag...
Open Access DOI:10.23937/ijrdd-2017/1710002
Contreras Roura Jiovanna, Robaina Zoe, Camayd Viera Ivette, Gonzalez-Gomez JC, Perez Garcia E, Martinez-Rey Laritza and Padron Aurelio David
Article Type: Original Article | First Published: March 29, 2018
Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26....
Open Access DOI:10.23937/ijrdd-2017/1710001
Pr Omar Boudghene Stambouli and Dib Lachachi Amina
Article Type: Case Study | First Published: October 19, 2017
This is the most frequent and is transmitted on an autosomal dominant mode. It appears from the first months of life and is manifested by flaky scales on the faces of extension of the limbs and convexities in general. The face and the large folds are respected....
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