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Genetic diversity of Lysosomal Storage Disorders in Portugal

2015-07-03Lecture Restricted access
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dc.contributor.authorAmaral, Olga
dc.date.accessioned2016-03-03T19:11:09Z
dc.date.available2016-03-03T19:11:09Z
dc.date.issued2015-07-03
dc.descriptionPalestra por convite da organização da Conferência.pt_PT
dc.descriptionPalestra em contexto de ação de formação avançada: "Pursuant to Regulation of Minister of Health of 06 October 2004 concerning methods of fulfilling the professional training requirement for physicians and dentists, participants of the conference will be granted educational points"pt_PT
dc.description.abstractSince the beginning of the analysis of mutations causal of Lysosomal Storage Diseases (LSDs) it became perceptible that the Portuguese presented distinct disease and mutational patterns from those of other populations. Some LSDs, such as Gangliosidosis GM2 (GM2), Metachromatic Leukodystrophy (MLD), Gaucher Disease (GD), Mucopolysaccharidosis type I (MPS I) and even Niemann Pick type C1 (NPC1) were noted for their relevance in terms of their representation in the Portuguese population. Concomitantly, other diseases seemed to be under represented (Pinto et al, 2004). In terms of causal mutations there were particular patterns of diversity which raised interest and led to the determination of the frequency of specific mutations in the Portuguese population. The patterns encountered were sometimes indicative of founder effects and of particular population demographic movements, which were later confirmed by the study of the haplotypes associated with the mutations. In this work we carried out three population screenings in order to establish the frequency of different mutations associated with variant B1 of GM2, MPS I and the infantile form of MLD. Such studies allowed the evaluation of the respective frequencies.pt_PT
dc.description.sponsorshipFCTpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3627
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttp://chorobyrzadkie.pl/materialy/plan.konferencji.en.2015.pdfpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectRare Diseasespt_PT
dc.subjectLysosomal Disorderspt_PT
dc.subjectGeneticspt_PT
dc.titleGenetic diversity of Lysosomal Storage Disorders in Portugalpt_PT
dc.typelecture
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT
oaire.citation.conferencePlaceBiałobrzegi, Polóniapt_PT
oaire.citation.title13th International Conference On Rare Diseases, “Rare Diseases Crossing Borders Together”, Association of Patients with Mucopolysaccharidosis and Rare Diseases, and Federation of Rare Diseases Patients in Central and Eastern Europe, 2-6 July 2015pt_PT
oaire.fundingStream5646-ICCMS
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typelecturept_PT
relation.isProjectOfPublicationb8dae1fe-2a52-46cc-9d8c-951a08bfa219
relation.isProjectOfPublication.latestForDiscoveryb8dae1fe-2a52-46cc-9d8c-951a08bfa219

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