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dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorMarques, Sandrapt_BR
dc.contributor.authorAndrade, Luis Gustavo Modelli dept_BR
dc.contributor.authorPessoa, Andrépt_BR
dc.contributor.authorVaisbich, Maria Helenapt_BR
dc.contributor.authorBlum, Angélicapt_BR
dc.contributor.authorTenório, Fernandapt_BR
dc.contributor.authorRosa Neto, Nilton Sallespt_BR
dc.date.accessioned2022-07-28T04:45:34Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn2326-4594pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/245615pt_BR
dc.description.abstractResearch on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofJournal of inborn errors of metabolism & screening. Porto Alegre. Vol. 10 (2022), e20210028, 13 p.pt_BR
dc.rightsOpen Accessen
dc.subjectDoença de Fabrypt_BR
dc.subjectFabry diseaseen
dc.subjectDiagnósticopt_BR
dc.subjectRare diseaseen
dc.subjectDiagnosticen
dc.subjectDoenças raraspt_BR
dc.subjectRevisãopt_BR
dc.titleClinical and diagnostic aspects of Fabry disease management : a narrative review with a particular focus on Brazilian experts’ perspectivespt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001145341pt_BR
dc.type.originNacionalpt_BR


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