Publication
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
| dc.contributor.author | Navarro, David | |
| dc.contributor.author | Azevedo, Ana | |
| dc.contributor.author | Sequeira, Sílvia | |
| dc.contributor.author | Ferreira, Ana Carina | |
| dc.contributor.author | Carvalho, Fernanda | |
| dc.contributor.author | Fidalgo, Teresa | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Santos, Maria Céu | |
| dc.contributor.author | Calado, Joaquim | |
| dc.contributor.author | Nolasco, Fernando | |
| dc.date.accessioned | 2019-03-21T12:49:37Z | |
| dc.date.available | 2019-03-21T12:49:37Z | |
| dc.date.issued | 2018-01-02 | |
| dc.description | Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929/ | pt_PT |
| 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. doi: 10.1007/s13730-017-0298-6. Epub 2018 Jan 2 | pt_PT |
| dc.identifier.doi | 10.1007/s13730-017-0298-6 | pt_PT |
| dc.identifier.issn | 2192-4449 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6264 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Springer | pt_PT |
| dc.relation.publisherversion | https://link.springer.com/article/10.1007%2Fs13730-017-0298-6 | pt_PT |
| dc.subject | Methylmalonic Aciduria and Homocystinuria | pt_PT |
| dc.subject | Thrombotic Microangiopathy | pt_PT |
| dc.subject | Vitamin B12 Metabolism | pt_PT |
| dc.subject | Doenças Genéticas | 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 | pt_PT |
| oaire.citation.title | Clinical and Experimental Nephrology (CEN) Case Reports | pt_PT |
| oaire.citation.volume | 7 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | article | pt_PT |