1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

Natera-de Benito, Daniel; Sola, Abel; Sousa, Paulo Rego; Boronat, Susana; Expósito-Escudero, Jessica; Carrera-García, Laura; Ortez, Carlos

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.

Date: 2021   |   Origin: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author

















Date


Document Type


Access rights


Resource


Subject