Buscar
Mostrando ítems 1-9 de 9
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
(BMC [Commercial Publisher], Orphanet [Associate Organisation], 2020)
Mucopolisacaridosis de tipo I Hurler: Informe de un caso
(Sociedad Argentina de Pediatría (SAP), 2014-03-05)
Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different ...
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 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 ...
Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I
(1999)
Background. The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. ...