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Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
(Elsevier, 2014)
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility ...
Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Mucolipidosis tipo II: comunicación de un caso
(Sociedad Médica de Santiago, 2003)
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2014)
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 ...
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 ...
Estudo prospectivo da deglutição na Mucopolissacaridose II (síndrome de Hunter) antes e após tratamento enzimático
(Sociedade Brasileira de Fonoaudiologia, 2011-06-01)
Case study with the aim to evaluate swallowing pre- and post-enzyme treatment of an individual with Mucopolysaccharidosis, and to analyze whether this treatment caused swallowing improvement. It was carried out a descriptive ...
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 ...