Cargando…
Clinical research challenges in rare genetic diseases in Brazil
Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world’s population. Res...
Autores principales: | Giugliani, Luciana, Vanzella, Claudia, Zambrano, Marina Bauer, Donis, Karina Carvalho, Wallau, Thaís Klassmann Wendland, da Costa, Fernando Machado, Giugliani, Roberto |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687354/ https://www.ncbi.nlm.nih.gov/pubmed/31170279 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0174 |
Ejemplares similares
-
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
por: Giugliani, Roberto, et al.
Publicado: (2018) -
Medical Genetics – Special issue dedicated to the 35(th)
anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto
Alegre, Brazil
por: Giugliani, Roberto
Publicado: (2019) -
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
por: Félix, Têmis Maria, et al.
Publicado: (2023) -
Population analysis of the GLB1 gene in South Brazil
por: Baiotto, Cléia, et al.
Publicado: (2011) -
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
por: Giugliani, Roberto, et al.
Publicado: (2016)