Publicação
Genes, crianças e pediatras
| Resumo: | Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present. |
|---|---|
| Autores principais: | Martins,Esmeralda |
| Outros Autores: | Oliveira,Teresa; Bandeira,Anabela |
| Ano: | 2012 |
| País: | Portugal |
| Tipo de documento: | relatório |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Fundação para a Ciência e Tecnologia |
| Idioma: | português |
| Origem: | SciELO Portugal |
| _version_ | 1868441696219430912 |
|---|---|
| author | Martins,Esmeralda |
| author2 | Oliveira,Teresa Bandeira,Anabela |
| author2_role | author author |
| author_facet | Martins,Esmeralda Oliveira,Teresa Bandeira,Anabela |
| author_role | author |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Martins,Esmeralda\"},{\"Person.name\":\"Oliveira,Teresa\"},{\"Person.name\":\"Bandeira,Anabela\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Martins,Esmeralda Oliveira,Teresa Bandeira,Anabela |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.titles.title.fl_str_mv | Genes, crianças e pediatras |
| dc.creator.none.fl_str_mv | Martins,Esmeralda Oliveira,Teresa Bandeira,Anabela |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000100015 |
| dc.language.none.fl_str_mv | por |
| dc.publisher.none.fl_str_mv | Centro Hospitalar do Porto |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Nascer e Crescer v.21 n.1 2012 |
| dc.title.fl_str_mv | Genes, crianças e pediatras |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_93fc |
| description | Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | report |
| id | scielopt_2d0fcd31bdd98feac283bca2f8545b84 |
| identifier.url.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000100015 |
| instacron_str | SciELO |
| institution | Fundação para a Ciência e Tecnologia |
| instname_str | Fundação para a Ciência e Tecnologia |
| language | por |
| network_acronym_str | scielopt |
| network_name_str | SciELO Portugal |
| oai_identifier_str | oai:scielo:S0872-07542012000100015 |
| organization_str_mv | urn:organizationAcronym:scielo |
| person_str_mv | Martins,Esmeralda Oliveira,Teresa Bandeira,Anabela |
| publishDate | 2012 |
| publisher.none.fl_str_mv | Centro Hospitalar do Porto |
| reponame_str | SciELO Portugal |
| repository_id_str | urn:repositoryAcronym:scielopt |
| service_str_mv | urn:repositoryAcronym:scielopt |
| spelling | Genes, crianças e pediatrasMartins,EsmeraldaOliveira,TeresaBandeira,Anabelaopen accesshttp://purl.org/coar/access_right/c_abf2http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000100015URLhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000100015URLHasVersion2012-01-01Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.Centro Hospitalar do PortoNascer e Crescer v.21 n.1 2012text/htmlporreporthttp://purl.org/coar/resource_type/c_93fcother research product |
| spellingShingle | Genes, crianças e pediatras Martins,Esmeralda |
| status | SINGLETON |
| title | Genes, crianças e pediatras |
| title_full | Genes, crianças e pediatras |
| title_fullStr | Genes, crianças e pediatras |
| title_full_unstemmed | Genes, crianças e pediatras |
| title_short | Genes, crianças e pediatras |
| title_sort | Genes, crianças e pediatras |
| url | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542012000100015 |
| visible | 1 |