Lysosomal Storage Diseases
Mostrando 13-24 de 58 artigos, teses e dissertações.
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13. Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
Abstract Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD publis
Genet. Mol. Biol.. Publicado em: 11/10/2018
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14. Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
Abstract We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 1
Genet. Mol. Biol.. Publicado em: 04/06/2018
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15. Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Abstract 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
Genet. Mol. Biol.. Publicado em: 16/03/2017
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16. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tan
Clinics. Publicado em: 2013-11
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17. Medicamentos de alto custo para doenças raras no Brasil : o exemplo das doenças lisossômicas / High cost drugs for rare diseases in Brazil : the case of lysosomal storage disorders
Este artigo aborda, de forma crítica, aspectos das políticas públicas brasileiras para medicamentos, com ênfase nos de alto custo dirigidos às doenças raras. As doenças lisossômicas foram utilizadas como exemplo pela sua raridade e pela tendência mundial para o desenvolvimento de novos fármacos para seu tratamento. Três doenças foram abordadas: d
Publicado em: 2011
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18. Tratamento inovador da compressão medular com reposição enzimática intratecal nas mucopolissacaridoses tipos I e VI : relato de uma série de casos / Innovative treatment of cord compression with trathecal enzyme replacement therapy in mucopolysaccharidoses I and VI: report of a case series
As mucopolissacaridoses apresentam uma história natural progressiva, causada por defeitos no metabolismo dos glicosaminoglicanos. Frequentemente graves, as mucopolissacaridoses encurtam de forma considerável a expectativa de vida do paciente. Apesar de que em muitos casos a função intelectual é normal, morbidade neurológica considerável pode ser causa
Publicado em: 2011
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19. Doença do armazenamento lisossomal causada pela ingestão espontânea de Sida carpinifolia em cervos Sambar (Cervus unicolor) cativos no Rio de Janeiro. / Lysosomal storage disease caused by spontaneous ingestion of Sida carpinifolia in captive-Sambar deer (Cervus unicolor) in Rio de Janeiro State, Brazil.
Cases of diseases induced by toxic plants in domestic herbivores are well reported throughout the world and have been studied also in Brazil. However, not much is known about the epidemiological and pathological aspectos of these conditions in free-living wildlife or bred in captivity. The risk for developing the toxicoses in captivity has been increasing, s
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 17/08/2010
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20. Effect of collection, transport, processing and storage of blood specimens on the activity of lysomal enzimes in plasma and leukocytes
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, total hexosaminidase, hexosaminidase A, arylsulfatase A and ß-galactosidase. The enzyme activities were not affected by the different ma
Publicado em: 2010
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21. A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are res
Publicado em: 2010
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22. Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases
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23. Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
A defective efflux of free sialic acid from the lysosomal compartment has been found in the clinically heterogeneous group of sialic acid storage disorders. Using radiolabeled sialic acid (NeuAc) as a substrate, we have recently detected and characterized a proton-driven carrier for sialic acid in the lysosomal membrane from rat liver. This carrier also reco
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24. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease.
Neuronal storage disorders are fatal neurodegenerative diseases of humans and animals that are caused by inherited deficiencies of lysosomal hydrolase activity. Affected individuals often appear normal at birth but eventually develop progressive neurologic symptoms including sensory and motor deficits, mental retardation, and seizures. We have examined effic