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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
(BMC [Commercial Publisher], Orphanet [Associate Organisation], 2020)
Papel de miRNAs na regulação da expressão do complexo multienzimático lisossômico
(Universidade Federal de São Paulo (UNIFESP), 2017-04-28)
Mucopolysaccharidosis type I (MPS I) is a genetic disease in which there is a deficiency in the expression of the lysosomal enzyme α-L-iduronidase (IDUA gene), which culminates in a generalized lysosomal disturbance. Thus, ...
Estudo da homeostase lisossômica e caracterização de fibroblastos de pacientes com doença de Fabry em cultura celular
(Universidade Federal de São Paulo (UNIFESP), 2017-01-31)
Fabry disease is one of the lysosomal storage diseases which has a X-linked recessive inheritance. A mutation in GLA gene, causes α-galactosidase A (α-Gal A) deficiency, that with the crescent accumulation of globotriaosylceramide ...
Caracterização de parâmetros reprodutivos em um modelo murino de mucopolissacaridose tipo I
(Universidade Federal de São Paulo (UNIFESP), 2018-08-30)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by α-L-iduronidase (IDUA) deficiency. IDUA is responsible for the breakdown of glycosaminoglycans (GAGs), specifically dermatan sulphate ...
Análise morfofuncional de órgãos reprodutivos masculinos e investigação do comportamento sexual em modelo animal de mucopolissacaridose do Tipo I (MPS I)
(Universidade Federal de São Paulo (UNIFESP), 2018-03-29)
Mucopolysaccharidosis Type I (MPS I) is a lysosomal storage disease caused by a mutation of IDUA gene. IDUA codes α-L-iduronidase, a lysosomal hydrolase that degrades heparan and dermatan sulfates, two types of glycosaminoglycans ...
Análise biomecânica, morfológica e da resposta nociceptiva em modelo animal de Mucopolissacaridose tipo I
(Universidade Federal de São Paulo (UNIFESP), 2019-02-28)
Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism (IEM), in which specific lysosomal enzymes that participate of glycosaminoglycan (GAG) degradation are deficient or inactive. Musculoskeletal impairment ...