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12,279 results
  • Burden of albinism: development and validation of a burden assessment tool. [Journal Article]
  • OJOrphanet J Rare Dis 2018 Sep 18; 13(1):162
  • Morice-Picard F, Taïeb C, … Filière Maladies Rares en Dermatologie: FIMARAD
  • CONCLUSIONS: This questionnaire represents the first specific assessment tool for evaluating the burden of albinism. It is easy to use and relatively quick to complete, which will allow the burden to be evaluated over time with a reproducible questionnaire. To ensure that this questionnaire can be used by as many people as possible, cultural and linguistic validation in US English was conducted with the original French version.
  • Arthritis Mutilans in Systemic Sclerosis. [Journal Article]
  • ARArthritis Rheumatol 2018 Sep 17
  • Abignano G, Mennillo GA, … D'Angelo S
  • A 40-year-old gentleman was diagnosed with anti-topoisomerase-I antibody positive diffuse cutaneous systemic sclerosis (SSc). Raynaud's phenomenon, diffuse skin sclerosis and severe interstitial lung...
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