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OJRD reviews
Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein.
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Articles
- RESEARCH
The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study
Published on: 19 September 2017 - RESEARCH
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Published on: 15 September 2017 - REVIEW
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
Published on: 11 September 2017 - LETTER TO THE EDITOR
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Published on: 7 September 2017 - RESEARCH
Prevalence of Amyloidosis in Korea
Published on: 6 September 2017
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