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.
Desenvolvimento na síndrome Cri-du-chat: Estudo de caso com acompanhamento longitudinal durante 20 anos com relevância na interação com a família e tratamento continuado Development in Cri-du-Chat syndrome: Case study with a 20 years follow-up with relevance in the family's interaction and continuous treatment
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