Publication
LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
| dc.contributor.author | Nunes, D. | |
| dc.contributor.author | Nogueira, C. | |
| dc.contributor.author | Lopes, A. | |
| dc.contributor.author | Chaves, P. | |
| dc.contributor.author | Rodrigues, E. | |
| dc.contributor.author | Cardoso, T. | |
| dc.contributor.author | Leão Teles, E. | |
| dc.contributor.author | Vilarinho, L. | |
| dc.date.accessioned | 2017-03-07T13:53:48Z | |
| dc.date.available | 2017-03-07T13:53:48Z | |
| dc.date.issued | 2016-12 | |
| dc.description | Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050266/ | pt_PT |
| dc.description.abstract | Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections are the most frequent trigger. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Mol Genet Metab Rep. 2016 Dec;9:29-30. eCollection 2016. doi: 10.1016/j.ymgmr.2016.09.004. Epub 2016 Oct 2. | pt_PT |
| dc.identifier.doi | 10.1016/j.ymgmr.2016.09.004 | pt_PT |
| dc.identifier.issn | 2214-4269 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4536 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S2214426916300830 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Rhabdomyolysis | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 30 | pt_PT |
| oaire.citation.startPage | 29 | pt_PT |
| oaire.citation.title | Molecular Genetics and Metabolism Reports | pt_PT |
| oaire.citation.volume | 9 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |