The Federative Republic of Brazil is a country of continental dimensions, whose territory
covers more than 8.5 million km2 and borders all the countries of South America except for …

The coronavirus disease 2019 (COVID-19) pandemic began in December 2019 in Wuhan,
China. The first serological test was performed using enzyme-linked immunosorbent assay (…

Medical Genetics has a recent history in Brazil and started out as a research program in
Human Genetics during the 1950s, mainly by a shift in work of Brazilian scientists from genetic …

Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS
VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior …

Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused
by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with …

In mucopolysaccharidosis VI, or Maroteaux–Lamy syndrome, deficiency of N-acetylgalactosamine
4-sulfatase leads to storage of glycosaminoglycans (GAGs) and MPS VI patients often …

The COVID‐19 pandemic has led to a reorganization of health systems to prioritize the fight
against the virus. The adoption of social distancing interfered with the flow of existing policies…

IRF2BPL gene variants have recently been associated to developmental disability and epilepsy
in children and movement disorders in adults. So far, only few cases have been reported…

Brazil has been experiencing an outbreak of Zika virus, a flavivirus transmitted by Aedes
mosquitoes. Since October 2015, more than 4,000 infants, 1 born to mothers suspected to have …

O impacto dos defeitos congênitos no Brasil vem aumentando progressivamente, tendo
passado da quinta para a segunda causa dos óbitos em menores de um ano entre 1980 e 2000…