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...
Updated birth prevalence and relative frequency of mucopolysaccharidoses across...
Josahkian,Juliana Alves; Trapp,Franciele Barbosa; Burin,Maira Graeff; Michelin-Tirelli,Kristiane; Magalhães,Ana Paula Pereira Scholz deAbstract The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a nati...
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...
Relative frequency and estimated minimal frequency of Lysosomal Storage Disease...
Giugliani,Roberto; Federhen,Andressa; Michelin-Tirelli,Kristiane; Riegel,Mariluce; Burin,MairaAbstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM...