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- Michał M Skoczylas.
- Wiad. Lek. 2014 Jan 1; 67 (4): 569-70.
AbstractThe conference 'Rare diseases not only in the curriculum', organised on 12th May, 2014 in Pomeranian Medical University in Szczecin, had a scientific and educational character. Representatives of patient organizations, medical students, junior doctors and physiotherapist were active participants of the meeting. There were rare diseases presented--from the medical curriculum, e.g., Wilson disease, Noonan syndrome and Diamond Blackfan anemia--and diseases that are not discussed in the course of medical studies in Poland, as Costello syndrome, Rabson-Mendenhall syndrome and cholestasis familiaris groenlandica--Byler-like disease.The importance of physiotherapy of children with spinal muscular atrophy was discussed.The place ofthe issue of rare diseases in the idea of personalized medicine was specified and difficulties in the care of patients with rare diseases, including muscle and metabolic diseases, in Poland were explained.
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