Amaral, Olga2013-10-182013-10-182013-06-28http://hdl.handle.net/10400.18/1737Comissão científica constituida por especialistas de vários países. O encontro contou com mais de 200 participantes da Europa Ociental, Central e de Leste e convidados de USA, Israel, e vários países Europeus. Programa: http://tircon.eu/files/Ang_XI_EU_Konf_Chorb_Rzadkich.pdf. Mais informações: http://www.rynekzdrowia.pl/Polityka-zdrowotna/Wyzwania-w-zakresie-chorob-rzadkich,131681,14.htmlPalestra por convite da comissão científicaIntroductory background: Inborn errors of metabolism constitute an important group of rare hereditary diseases. Such diseases started to be studied in Portugal in the early-mid 1980s. Among them, Lysosomal Storage Disorders (LSDs) constitute a challenging group of disorders. In Portugal, Gaucher disease and Tay Sachs variant B1 were the first to be studied and were the subject of intricate laboratory diagnosis and careful research. Aim: Provide an account of the experience with lysosomal storage disorders in Portugal.engHuman GeneticsGenetic DiseasesRare DiseasesGenética Humanaconference object