Publication
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
| dc.contributor.author | Navarro, D | |
| dc.contributor.author | Azevedo, A | |
| dc.contributor.author | Sequeira, S | |
| dc.contributor.author | Ferreira, AC | |
| dc.contributor.author | Carvalho, F | |
| dc.contributor.author | Fidalgo, T | |
| dc.contributor.author | Vilarinho, L | |
| dc.contributor.author | Santos, MC | |
| dc.contributor.author | Calado, J | |
| dc.contributor.author | Nolasco, F | |
| dc.date.accessioned | 2018-11-28T12:42:59Z | |
| dc.date.available | 2018-11-28T12:42:59Z | |
| dc.date.issued | 2018-05 | |
| dc.description.abstract | Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | CEN Case Rep. 2018 May;7(1):73-76. | pt_PT |
| dc.identifier.doi | 10.1007/s13730-017-0298-6 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/2181 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Síndrome Hemolítico-Urémico Atípico | pt_PT |
| dc.subject | Erros Inatos do Metabolismo dos Aminoácidos | pt_PT |
| dc.subject | Ácido Metilmalónico | pt_PT |
| dc.title | Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 76 | pt_PT |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 73-76 | pt_PT |
| oaire.citation.volume | 7 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |