Navegação Ciências da Saúde por Assunto "Mutations"
Resultados 1-3 de 3
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Extensive variation in drug-resistance mutational profile of Brazilian patients failing antiretroviral therapy in five large Brazilian cities
(2016) [Artigo de periódico]Background: Development of drug-resistance mutations is the main cause of failure in antiretroviral therapy. In Brazil, there is scarce information on resistance pattern for patients failing antiretroviral therapy. Objectives: ... -
Mucopolysaccharidoses in northern Brazil : targeted mutation screening and urinary glicosaminoglycan excretion in patients undergoing enzyme replacement therapy
(2011) [Artigo de periódico]Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce ... -
Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations
(2004) [Artigo de periódico]Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using ...
