Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

Detalhes bibliográficos
Autor(a) principal: Natera-de Benito, Daniel
Data de Publicação: 2021
Outros Autores: 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, Andres
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.26/36508
Resumo: 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.
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spelling Copper Toxicity Associated With an ATP7A-Related Complex PhenotypeATP7AATP7Bcopper replacement therapydistal hereditary motor neuropathyoccipital horn syndromePortugalRegião Autónoma da MadeiraThe 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.Elsevier Inc.Repositório ComumNatera-de Benito, DanielSola, AbelSousa, Paulo RegoBoronat, SusanaExpósito-Escudero, JessicaCarrera-García, LauraOrtez, CarlosJou, CristinaMuchart, JordiRebollo, MonicaArmstrong, JudithColomer, JaumeGarcia-Cazorla, ÀngelsHoenicka, JanetPalau, FrancescNascimento, Andres2021-05-17T17:37:11Z2021-03-262021-03-26T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.26/36508engPediatric Neurology 119 (2021) 40e4410.1016/j.pediatrneurol.2021.03.005info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-10T02:18:11Zoai:comum.rcaap.pt:10400.26/36508Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:34:33.671281Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
title Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
spellingShingle Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
Natera-de Benito, Daniel
ATP7A
ATP7B
copper replacement therapy
distal hereditary motor neuropathy
occipital horn syndrome
Portugal
Região Autónoma da Madeira
title_short Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
title_full Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
title_fullStr Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
title_full_unstemmed Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
title_sort Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
author Natera-de Benito, Daniel
author_facet 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, Andres
author_role author
author2 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, Andres
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Comum
dc.contributor.author.fl_str_mv 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, Andres
dc.subject.por.fl_str_mv ATP7A
ATP7B
copper replacement therapy
distal hereditary motor neuropathy
occipital horn syndrome
Portugal
Região Autónoma da Madeira
topic ATP7A
ATP7B
copper replacement therapy
distal hereditary motor neuropathy
occipital horn syndrome
Portugal
Região Autónoma da Madeira
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021-05-17T17:37:11Z
2021-03-26
2021-03-26T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.26/36508
url http://hdl.handle.net/10400.26/36508
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Pediatric Neurology 119 (2021) 40e44
10.1016/j.pediatrneurol.2021.03.005
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier Inc.
publisher.none.fl_str_mv Elsevier Inc.
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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