Navegação Ciências Biológicas por Autor "Burin, Maira Graeff"
Resultados 1-20 de 21
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Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
(2000) [Artigo de periódico]As mucopolissacaridoses (MPS) constituem um grupo de erros inatos do metabolismo lisossomal dos glicosaminoglicanos (GAG) bastante heterogêneo. A importância das MPS levou-nos a relatar as características de 19 casos. ... -
Diagnostic and treatment strategies in mucopolysaccharidosis VI
(2015) [Artigo de periódico]Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ... -
Effect of collection, transport, processing and storage of blood specimens on the activity of lysomal enzimes in plasma and leukocytes
(2000) [Artigo de periódico]This study was designed to evaluate the effect of different conditions of collection, transport and storage on the quality of blood samples from normal individuals in terms of the activity of the enzymes ß- glucuronidase, ... -
Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C
(2022) [Artigo de periódico]Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ... -
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis Type II
(2014) [Artigo de periódico]Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained ... -
Genomic analysis of Brazilian patients with fabry disease
(2007) [Artigo de periódico]Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, ... -
Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases
(2019) [Artigo de periódico]Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many ... -
Investigação de erros inatos do metabolismo
(2001) [Artigo de periódico]Os erros inatos do metabolismo são doenças metabólicas hereditárias individualmente raras, mas que em seu conjunto apresentam uma incidência aproximada de pelo menos 1 caso para cada mil nascimentos. O presente trabalho ... -
Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer
(2017) [Artigo de periódico] -
Lysosomal diseases : overview on current diagnosis and treatment
(2019) [Artigo de periódico]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, ... -
Measurement of sulfatides in the amniotic fluid supernatant : a useful tool in the prenatal diagnosis of metachromatic leukodystrophy
(2022) [Artigo de periódico]Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood ... -
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods
(2020) [Artigo de periódico]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 ... -
Mucopolissacaridose tipo I em cão
(2021) [Artigo de periódico]Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ... -
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) : assessment of joint mobility and grip and pinch strength
(2008) [Artigo de periódico]Objetivo: Descrever o perfil de mobilidade articular e das forças de garra e de pinça de indivíduoscomMPSVI, além de sua correlação com a excreção urinária de glicosaminoglicanos, atividade da ARSB e distância percorrida ... -
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays
(2020) [Artigo de periódico]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 ... -
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22) : an ilustrative case in the investigation of patients with low ARSA activity
(2012) [Artigo de periódico]A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this ... -
Population medical genetics : translating science to the community
(2019) [Artigo de periódico]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 ... -
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: report from a reference laboratory
(2017) [Artigo de periódico]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 ... -
Selective screening of 18,000 high-risk brazilian patients for the detection of inborn errors of metabolism
(2001) [Artigo de periódico]OBJECTIVE: The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set ... -
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
(2021) [Artigo de periódico]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, ...
