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dc.contributor.authorVieira, Taiane Alvespt_BR
dc.contributor.authorTrapp, Franciele Barbosapt_BR
dc.contributor.authorSouza, Carolina Fischinger Moura dept_BR
dc.contributor.authorFaccini, Lavinia Schulerpt_BR
dc.contributor.authorJardim, Laura Bannachpt_BR
dc.contributor.authorSchwartz, Ida Vanessa Doederleinpt_BR
dc.contributor.authorRiegel, Marilucept_BR
dc.contributor.authorVargas, Carmen Reglapt_BR
dc.contributor.authorBurin, Maira Graeffpt_BR
dc.contributor.authorLeistner-Segal, Sandrapt_BR
dc.contributor.authorProlla, Patrícia Ashtonpt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.date.accessioned2019-10-25T03:47:05Zpt_BR
dc.date.issued2019pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/201010pt_BR
dc.description.abstractBrazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto. Vol. 42, no. 1 suppl. 1 (2019), p. 155-164pt_BR
dc.rightsOpen Accessen
dc.subjectDoenças genéticas inataspt_BR
dc.subjectInformation servicesen
dc.subjectServiços de informaçãopt_BR
dc.subjectMedical geneticsen
dc.subjectDiagnostic networksen
dc.subjectRare diseasesen
dc.subjectReference centersen
dc.titleInformation and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseasespt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001099527pt_BR
dc.type.originNacionalpt_BR


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