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Terapia de reposição da enzima alfa-L-iduronidase recombinante em pacientes portadores de mucopolissacaridose do tipo I: análise de glicosaminoglicanos urinários e correlações clínicas
(Universidade Federal de São Paulo (UNIFESP), 2009)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease caused by deficiency of -L-iduronidase, which cleaves terminal iduronic acid residues of glycosaminoglycans (GAGs), heparan sulphate (HS) and dermatan ...
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2003)
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
(BMC [Commercial Publisher], Orphanet [Associate Organisation], 2020)
Laronidase for treating mucopolysaccharidosis type I
(Funpec-editora, 2007-01-01)
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, ...
Estudo bioquímico e molecular em pacientes portadores de mucopolissacaridose tipo I
(Universidade Federal de São Paulo (UNIFESP), 2006)
Introdução: A mucopolissacaridose tipo I (MPS I) é uma doença autossômica recessiva causada pela deficiência da enzima lisossomal a-L-iduronidase (IDUA), responsável pela degradação de glicosaminoglicanos. O acúmulo destes ...
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
(B M J Publishing GroupLondonInglaterra, 2011)
Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy
(Elsevier B.V., 2008-01-01)
Background: Mucopolysaccharidosis type I (NIPS 1) patients present a wide range of clinical manifestations, which could be due to the high molecular heterogeneity of the IDUA gene and to pathological events besides the ...