Rare Diseases [NEW TOPIC PAGE]

Main|Search|PHGKB




Last Posted: Feb 23, 2019

---

• Two drugs for spinal muscular atrophy should be priced how low to be cost effective?
  E Silverman, Stat News, February 22, 2019
• Nitisinone increases melanin in people with albinism
  NIH News Release, February 20, 2019
• Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
  Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41
• Personalization of therapies in rare diseases: a translational approach for the treatment of cystic fibrosis.
  Villella Valeria R et al. Minerva pediatrica 2019 Feb
• Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
  Almási Tímea et al. Orphanet journal of rare diseases 2019 Feb 14(1) 40
• The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
  Seidel Markus G et al. The journal of allergy and clinical immunology. In practice 2019 Feb
• Rare Diseases Are Not Rare!
  C Austin, NIH, February 2019
• I have a rare disease. Research on such illnesses can provide insights into more common ones.
  SH Bacon, Washington Post, February 15, 2019
• The patient's view on rare disease trial design - a qualitative study.
  Gaasterland C M W et al. Orphanet journal of rare diseases 2019 Feb 14(1) 31
• Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
  Gainotti Sabina et al. International journal of environmental research and public health 2018 15(10)

more