Last Posted: Feb 17, 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)
- Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.
Klein Christoph et al. EMBO molecular medicine 2018 10(1) 1-3
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106
- Information and genetic counselling for psychiatric risks in children with rare disorders
A Cuthbert et al, BioRXIV, February 2019
- Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne Aline et al. European journal of human genetics : EJHG 2019 Feb
- Hemophilia carrier's awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d'Ivoire (Ivory Coast).
Lambert Catherine et al. Orphanet journal of rare diseases 2019 Feb 14(1) 26
- Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings.
Murphy Malia S Q et al. Orphanet journal of rare diseases 2019 Jan 14(1) 25
- With time ticking away, clinicians scramble to save newborn twins from the disease that took their brother
R Robbins, Stat News, February 5, 2019