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dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorTaucher, Silvia Castillopt_BR
dc.contributor.authorHafez, Sylviapt_BR
dc.contributor.authorOliveira, João Boscopt_BR
dc.contributor.authorRestrepo, Mariana Ricopt_BR
dc.contributor.authorRozenfeld, Paulapt_BR
dc.contributor.authorZarante, Ignaciopt_BR
dc.contributor.authorGonzaga-Jauregui, Claudiapt_BR
dc.date.accessioned2023-03-10T03:26:47Zpt_BR
dc.date.issued2022pt_BR
dc.identifier.issn1664-8021pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/255538pt_BR
dc.description.abstractRare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofFrontiers in genetics. Lausanne. Vol. 13 (Dec. 2022), 1053559, 18 p.pt_BR
dc.rightsOpen Accessen
dc.subjectTriagem neonatalpt_BR
dc.subjectNewborn screeningen
dc.subjectDiagnóstico precocept_BR
dc.subjectEarly diagnosisen
dc.subjectRare diseasesen
dc.subjectDoenças raraspt_BR
dc.subjectDiagnostic odysseyen
dc.subjectGenômicapt_BR
dc.subjectLatin Americaen
dc.subjectTécnicas de diagnóstico molecularpt_BR
dc.subjectGeneticsen
dc.subjectgenomicsen
dc.subjectMolecular diagnosisen
dc.titleOpportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin Americapt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001161107pt_BR
dc.type.originEstrangeiropt_BR


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