Browsing by Author "Sousa, Paulo Rego"
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- Copper Toxicity Associated With an ATP7A-Related Complex PhenotypePublication . Natera-de Benito, Daniel; Sola, Abel; Sousa, Paulo Rego; Boronat, Susana; Expósito-Escudero, Jessica; Carrera-García, Laura; Ortez, Carlos; Jou, Cristina; Muchart, Jordi; Rebollo, Monica; Armstrong, Judith; Colomer, Jaume; Garcia-Cazorla, Àngels; Hoenicka, Janet; Palau, Francesc; Nascimento, AndresThe 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.