Journal of Rare Disorders Journal Cover View Larger

ISSN 2325-6222

Current Issue: December 2013

In This Issue

  • Letter From the Editors

  • Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians

  • Recent FDA Orphan Drug Designations I.  Without Cancer Drugs(March 25, 2013, to May 30, 2013)

  • Toward European Guidelines for PKU: How to Speak a Common Language?

  • Phenotypic Variability in Individuals with Type V Osteogenesis Imperfecta with Identical IFITM5 Mutations

  • Cochrane Corner Enzymes for Inborn Errors: Laronidase (Aldurazyme®) 
    for Treating Mucopolysaccharidosis Type I

Articles In This Issue »

Submit Your Manuscript

We are now accepting submissions for future issues. 

Please click on tab above for Author Guidelines.



Important Resources



Journal Archive