التفاصيل البيبلوغرافية
| العنوان: |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
| المؤلفون: |
Vieira,Taiane Alves, Trapp,Franciele Barbosa, Souza,Carolina Fischinger Moura de, Faccini,Lavínia Schuler, Jardim,Laura Bannach, Schwartz,Ida Vanessa Doederlein, Riegel,Mariluce, Vargas,Carmen Regla, Burin,Maira Graeff, Leistner-Segal,Sandra, Ashton-Prolla,Patrícia, Giugliani,Roberto |
| المصدر: |
Genetics and Molecular Biology v.42 n.1 suppl.1 2019 |
| بيانات النشر: |
Sociedade Brasileira de Genética |
| سنة النشر: |
2019 |
| المجموعة: |
SciELO Brazil (Scientific Electronic Library Online) |
| مصطلحات موضوعية: |
Information services, Medical Genetics, diagnostic networks, rare diseases, reference centers |
| الوصف: |
Brazil 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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
text/html |
| اللغة: |
English |
| الإتاحة: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155Test |
| حقوق: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.A429872E |
| قاعدة البيانات: |
BASE |
