An account of the portuguese experience: advances and challenges in diagnosis, therapy and research in lysosomal disorders

Amaral, Olga

http://hdl.handle.net/10400.18/1737

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Rare disease - upcoming challenges28_2013_SPALA_POLONIA.pdf		8.43 MB	Adobe PDF	Download

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Authors

Amaral, Olga

Abstract(s)

Introductory 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.

Description

Comissão 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.html
Palestra por convite da comissão científica