4 documents found, page 1 of 1
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a re...
Sebastião,Fernanda Medeiros; Michelin-Tirelli,Kristiane; Bender,Fernanda; Lopes,Franciele Fátima; Moraes,Inamara; Kubaski,Francyne; Giugliani,RobertoAbstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagn...
Newborn screening for lysosomal disorders in Brazil: A pilot study using custom...
Bender,Fernanda; Burin,Maira G.; Tirelli,Kristiane M.; Medeiros,Fernanda; Bitencourt,Fernanda Hendges de; Civallero,Gabriel; Kubaski,FrancyneAbstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being...
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proport...
Lysosomal diseases: Overview on current diagnosis and treatment
Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,FrancyneAbstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review th...