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The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders

2023-05Conference object Restricted access
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dc.contributor.authorCarvalho, S.
dc.contributor.authorSantos, J.I.
dc.contributor.authorMoreira, L.
dc.contributor.authorGaspar, P.
dc.contributor.authorGonçalves, M.
dc.contributor.authorEncarnação, M.
dc.contributor.authorRibeiro, D.
dc.contributor.authorDuarte, A.
dc.contributor.authorPrata, M.J.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorAlves, Sandra
dc.date.accessioned2024-02-27T17:08:09Z
dc.date.available2024-02-27T17:08:09Z
dc.date.issued2023-05
dc.description.abstractThe problem we are addressing: Despite extensive research, the links between accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of Mucopolysaccharidoses (MPSs) have yet to be further elucidated. These Lysosomal Storage Diseases (LSDs) present symptoms, which may (or may not) include critical musculoskeletal and cardiovascular alterations, respiratory problems, and serious neurological dysfunctions. The skeletal and brain systems are the hardest ones to access and, consequently, those in greatest need of additional knowledge and novel therapeutic solutions.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/9149
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.relationNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
dc.subjectGenetic Disorderspt_PT
dc.subjectMucopolysaccharidosespt_PT
dc.subjectGlycosaminoglycanspt_PT
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleThe disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorderspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleNeurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FBTM-SAL%2F0659%2F2021/PT
oaire.citation.conferencePlaceVila Real, Portugalpt_PT
oaire.citation.title2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS), 29-30 November 2023pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublication41df0cc8-c7fb-435b-83d5-9e2249fcc86d
relation.isProjectOfPublication.latestForDiscovery41df0cc8-c7fb-435b-83d5-9e2249fcc86d

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