Publication
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
| dc.contributor.author | Natera-de Benito, Daniel | |
| dc.contributor.author | Sola, Abel | |
| dc.contributor.author | Sousa, Paulo Rego | |
| dc.contributor.author | Boronat, Susana | |
| dc.contributor.author | Expósito-Escudero, Jessica | |
| dc.contributor.author | Carrera-García, Laura | |
| dc.contributor.author | Ortez, Carlos | |
| dc.contributor.author | Jou, Cristina | |
| dc.contributor.author | Muchart, Jordi | |
| dc.contributor.author | Rebollo, Monica | |
| dc.contributor.author | Armstrong, Judith | |
| dc.contributor.author | Colomer, Jaume | |
| dc.contributor.author | Garcia-Cazorla, Àngels | |
| dc.contributor.author | Hoenicka, Janet | |
| dc.contributor.author | Palau, Francesc | |
| dc.contributor.author | Nascimento, Andres | |
| dc.date.accessioned | 2021-05-17T17:37:11Z | |
| dc.date.available | 2021-05-17T17:37:11Z | |
| dc.date.issued | 2021-03-26 | |
| dc.description.abstract | The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Pediatric Neurology 119 (2021) 40e44 | pt_PT |
| dc.identifier.doi | 10.1016/j.pediatrneurol.2021.03.005 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.26/36508 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Elsevier Inc. | pt_PT |
| dc.relation.publisherversion | www.elsevier.com/locate/pnu | pt_PT |
| dc.subject | ATP7A | pt_PT |
| dc.subject | ATP7B | pt_PT |
| dc.subject | copper replacement therapy | pt_PT |
| dc.subject | distal hereditary motor neuropathy | pt_PT |
| dc.subject | occipital horn syndrome | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.subject | Região Autónoma da Madeira | pt_PT |
| dc.title | Copper Toxicity Associated With an ATP7A-Related Complex Phenotype | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 44 | pt_PT |
| oaire.citation.startPage | 40 | pt_PT |
| oaire.citation.title | Pediatric Neurology | pt_PT |
| oaire.citation.volume | 119 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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