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Pathogenesis of preeclampsia: The genetic component
(2012)
Preeclampsia (PE) is one of the main causes of maternal and fetal morbidity and mortality in the world, causing nearly 40% of births delivered before 35 weeks of gestation. PE begins with inadequate trophoblast invasion ...
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
(Sociedade Brasileira de Genética, 2013)
Fumaric aciduria: an overview and the first brazilian case report
(Springer Verlag, 2015)
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
(Sociedade Brasileira de Genética, 1998)
Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado
entre a população brasileira, uma grave e rara doença de depósito lisossomal, com
apenas 12 casos claramente descritos mundialmente. ...
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
(Elsevier [Commercial Publisher], Academic Press [Associate Organisation], Society for Inherited Metabolic Disorders [Associate Organisation], 2021)