Publication
An account of the portuguese experience: advances and challenges in diagnosis, therapy and research in lysosomal disorders
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2013-10-18T13:09:29Z | |
| dc.date.available | 2013-10-18T13:09:29Z | |
| dc.date.issued | 2013-06-28 | |
| dc.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 | por |
| dc.description | Palestra por convite da comissão científica | por |
| dc.description.abstract | 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. | por |
| dc.description.sponsorship | Apoio: EURORDIS, CCE-GN, Polish MPS & Rare Diseases Society, Federation of rare diseases patients in Central and Eastern Europe, Ministerstwo Zdrowia, etc | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1737 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Human Genetics | por |
| dc.subject | Genetic Diseases | por |
| dc.subject | Rare Diseases | por |
| dc.subject | Genética Humana | por |
| dc.title | An account of the portuguese experience: advances and challenges in diagnosis, therapy and research in lysosomal disorders | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Spala, Polónia | por |
| oaire.citation.title | 11th European Conference on Rare Diseases: "Rare diseases - upcoming challenges", Polish MPS & Rare Diseases Society, 28-30 junho 2013 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |
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