Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/62006
Registo completo
Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Azevedo, Olga | por |
dc.contributor.author | Gago, Miguel | por |
dc.contributor.author | Miltenberger-Miltenyi, Gabriel | por |
dc.contributor.author | Gaspar, Paulo | por |
dc.contributor.author | Sousa, Nuno | por |
dc.contributor.author | Cunha, Damião | por |
dc.date.accessioned | 2019-11-11T10:47:40Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Azevedo, O., Gago, M., Miltenberger-Miltenyi, G., et. al. (2017). Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease. Cardiology, 137(2), 67-73. | por |
dc.identifier.issn | 0008-6312 | - |
dc.identifier.uri | https://hdl.handle.net/1822/62006 | - |
dc.description.abstract | We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family. | por |
dc.language.iso | eng | por |
dc.publisher | Karger Publishers | por |
dc.rights | closedAccess | por |
dc.subject | Adult | por |
dc.subject | Codon, Nonsense | por |
dc.subject | Echocardiography | por |
dc.subject | Fabry Disease | por |
dc.subject | Female | por |
dc.subject | Heterozygote | por |
dc.subject | Humans | por |
dc.subject | Hypertrophy, Left Ventricular | por |
dc.subject | Male | por |
dc.subject | Middle Aged | por |
dc.subject | Pedigree | por |
dc.subject | Phenotype | por |
dc.subject | Sex Factors | por |
dc.subject | Young Adult | por |
dc.subject | alpha-Galactosidase | por |
dc.subject | Nonsense | por |
dc.subject | Mutation | por |
dc.subject | Classical phenotype | por |
dc.subject | GLA gene | por |
dc.subject | Left ventricular hypertrophy | por |
dc.title | Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease | por |
dc.type | article | por |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | https://www.karger.com/Article/Abstract/455117 | por |
oaire.citationStartPage | 67 | por |
oaire.citationEndPage | 73 | por |
oaire.citationIssue | 2 | por |
oaire.citationVolume | 137 | por |
dc.identifier.eissn | 1421-9751 | - |
dc.identifier.doi | 10.1159/000455117 | por |
dc.date.embargo | 10000-01-01 | - |
dc.identifier.pmid | 28152533 | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Cardiology | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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azevedo2017.pdf Acesso restrito! | 154,33 kB | Adobe PDF | Ver/Abrir |