Publication
Characterization of a comon IDUA in the Portuguese population
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Duarte, Ana | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2012-03-12T11:12:52Z | |
| dc.date.available | 2012-03-12T11:12:52Z | |
| dc.date.issued | 2011-11 | |
| dc.description | DR is also in the Master Program of Health Sciences – H.S.S., University of Minho. | por |
| dc.description.abstract | Mucopolysaccharidosis type I (MPS I; OMIM #252800) is an autosomal recessive disorder, which results from the defective activity of the lysosomal enzyme α-L-iduronidase (IDUA, EC 3.2.1.76). In MPS I, this enzyme deficiency results in a progressive accumulation of the undegraded substrates within tissue lysosomes and fluids, leading to the clinical manifestations of the disease. W402X has been described as common in patients of European Caucasian origin. Moreover, this mutation has been considered to play an important role in terms of the pathophysiology of MPS I. The results of current functional experiments will be presented. | por |
| dc.description.sponsorship | This work was financially supported by National Funds through FCT (MCTES) under Project PIC/IC/82822/2007. AJD and DR have FCT grants. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/724 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | SPDM | por |
| dc.relation | PIC/IC/82822/2007 - FCT (MCTES) | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Doenças Metabólicas | por |
| dc.subject | MPS I | por |
| dc.subject | IDUA | por |
| dc.subject | Genetics | por |
| dc.title | Characterization of a comon IDUA in the Portuguese population | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | por |
| oaire.citation.title | VIII International Symposium of SPDM, 3-4 November 2011 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |