Publication
Integrative approaches for the diagnosis of inborn errors of metabolism
| dc.contributor.author | Rocha, H. | |
| dc.date.accessioned | 2020-07-31T23:08:44Z | |
| dc.date.available | 2020-07-31T23:08:44Z | |
| dc.date.issued | 2019-06 | |
| dc.description.abstract | Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Clin Chim Acta. 2019;493: S738. doi:10.1016/j.cca.2019.03.1430 (EuroMedLab 2019 Abstracts) | pt_PT |
| dc.identifier.doi | 10.1016/j.cca.2019.03.1430 | pt_PT |
| dc.identifier.issn | 0009-8981 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7167 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | no | pt_PT |
| dc.subject | Inborn Errors of Metabolism | pt_PT |
| dc.subject | IEM | pt_PT |
| dc.subject | Diagnosis | pt_PT |
| dc.subject | New Trends | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Integrative approaches for the diagnosis of inborn errors of metabolism | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Barcelona, Espanha | pt_PT |
| oaire.citation.startPage | S738 | pt_PT |
| oaire.citation.title | EuromedLab 2019 - 23rd IFCC-EFLM European Congress of Clinical Chemistry and Laboratory, 19-23 May 2019 | pt_PT |
| oaire.citation.volume | 493 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |