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...
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried...
Sebastião,Fernanda Medeiros; Burin,Maira Graeff; Civallero,Gabriel; Tirelli,Kristiane Michelin; Sitta,Angela; Coelho,Daniella de MouraAbstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using high-performance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study w...
Transferrin isoelectric focusing for the investigation of congenital disorders ...
Magalhães,Ana Paula Pereira Scholz de; Burin,Maira Graeff; Souza,Carolina Fischinger Moura de; de Bitencourt,Fernanda HendgesAbstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test du...