Inborn Errors Of Metabolism
Mostrando 13-24 de 61 artigos, teses e dissertações.
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13. High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories
Abstract Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step. The number of laboratories dedicated to the study of IEM is very limited worldwide, and its multiplication is urgently
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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14. The Frequency of Infective Endocarditis in Candida Bloodstream Infections: a Retrospective Study in a Child Hospital
Abstract Introduction: Fungal endocarditis is reported less frequently than bacterial endocarditis, with an incidence of 0-12% of the total pediatric infective endocarditis. Objective: In this study, the incidence of infective endocarditis in Candida bloodstream infections in a tertiary hospital during the periods of 2007 and 2016 was reviewed. Methods: P
Braz. J. Cardiovasc. Surg.. Publicado em: 2018-02
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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. Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
Doenças raras negligenciadas, como erros inatos do metabolismo (IEM), afetam uma parcela pequena da população, mas necessitam de mais atenção da saúde pública no Brasil. Investigação de 8.000 pacientes em laboratório analítico de referência no Rio de Janeiro revelou 487 IEM (6,1%). O número de casos diagnosticados poderia ser maior se existissem
J. Braz. Chem. Soc.. Publicado em: 2014-10
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17. Severity score system for progressive myelopathy: development and validation of a new clinical scale
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopath
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-07
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18. Avaliação audiológica em pacientes com mucopolissacaridose: estudo da ocorrência, tipo e grau de perda auditiva / Audiological evaluation in mucopolysaccharidosis: study of the occurrence, type and degree of hearing loss
Purpose: the mucopolysaccharidosis are a group of diseases caused by a deficiency in the lysosomal enzymes involved in the metabolism of mucopolysaccharides. Inherited metabolic diseases are caused by inborn errors of metabolism that lead to lack of proper functioning of certain enzymes. Hearing loss is a frequent manifestation in patients with mucopolysacch
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/01/2011
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19. Avaliação da ativação leucocitária em recém- nascidos prematuros de mães com pré-eclampsia
Neutropenia is frequent in newborn infants of preeclamptic mothers.Information on leukocyte activation in those newborns is scarce, but IL-8 and GRO- are the main proinflammatory cytokines involved. The aim was to study IL-8 and GRO- plasma levels in preterm newborn infants of preeclamptic mothers. Methods: Newborn infants with gestational age <36 weeks and
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2011
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20. Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase : avaliação da responsividade ao BH4 em pacientes acompanhados no Serviço de Genética Médica do HCPA e que apresentam controle metabólico adequado
Introdução: Estudos recentes, utilizando vários protocolos, têm demonstrado que pacientes com Hiperfenilalaninemia por deficiência de fenilalanina hidroxilase (HPA-PAH) podem apresentar redução das concentrações plasmáticas de fenilalanina (Phe) mediante a administração de tetrahidrobiopterina (BH4). Objetivo: Determinar, em uma amostra de pacien
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2011
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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. Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina
Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoat
Publicado em: 2010
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23. 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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24. Fatores associados a adesão ao tratamento dos pacientes com fenilcetonúria acompanhados pelo Serviço de Genética Médica do Hospital de Clinícas de Porto Alegre
Introdução: Os Erros Inatos do Metabolismo ocorrem devido a um defeito enzimático que determina um bloqueio em uma via metabólica, sendo a maioria herdada de forma autossômica recessiva. A fenilcetonúria (PKU) é um erro inato do metabolismo associado à atividade deficiente da enzima hepática fenilalanina hidroxilase, a qual converte a fenilalanina e
Publicado em: 2010