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Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome)
(Wiley, 2016)
Background Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
(2017-01-01)
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...
Interferência da disfagia orofaríngea no consumo alimentar de indivíduos com mucopolissacaridose II
(CEFAC Saúde e Educação, 2012-12-01)
PURPOSE: this study aimed to relate the degree of dysphagia and food consumption of individuals with mucopolysaccharidosis II (MPS II). METHOD: it was included individuals with MPS II of the genetics department at the State ...
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
(Associação Médica Brasileira, 2010)
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos ...
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
(HCPA/FAMED/UFRGS, 2014)
Enzyme replacement therapy for mucopolysaccharidosis type II: Experience from a Brazilian reference center
(Elsevier B.V., 2015-02-01)
Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center
(Springer, 2014-12-01)
Mucopolysaccharidosis (MPS) encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans in organs and tissues. Respiratory disorders occur in all MPS types. in ...
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
(SPRINGER, 2009)
The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were ...
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
(Springer Verlag, 2009)
The aim of the study was to characterize
clinically and biochemically mucopolysaccharidosis
type II (MPS II) heterozygotes. Fifty-two women at
risk to be a carrier, with a mean age of 34.1 years
(range 16–57 years), were ...