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Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome).
(EsmonBarcelona, 2011-01-01)
Hunter syndrome or type II mucopolysaccharidosis is a rare lysosomal storage disease of X-linked recessive inheritance. It is characterized by a lack of the enzyme iduronate 2 sulfatase (I2S), which leads to the accumulation ...
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 ...
Funcionamiento neuropsicológico de un adolescente diagnósticado con síndrome de Maroteaux-Lamy.
(Corporación Universitaria Minuto de DiosUNIMINUTO Rectoría Sede Principal, 2017-05)
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
(Associação Médica Brasileira, 2010-01-01)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients ...
História natural da deglutição e linguagem na Mucopolissacaridose II
(Universidade Federal de São Paulo (UNIFESP), 2010-02-24)
Purpose: To analyze the evolution of language and swallowing alterations of patients diagnosed with mucopolysaccharidosis type II after one year of the first assessment, and to observe the influence of the variables age, ...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(2010)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
Caracterización neuropsicológica de niños, niñas y adolescentes con mucopolisacaridosis tipo II, IV A y VI vinculados a Acopel en Bogotá, Colombia
(Universidad de San BuenaventuraBogotáFacultad de PsicologíaMaestría en Neuropsicología Clínica, 2023)