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Mucopolysaccharidosis type II: skeletal-muscle system involvement
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
(Elsevier, 2014-08)
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of ...
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)
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)
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 ...