Now showing items 1-10 of 12
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, ...
Avaliação audiológica em pacientes com mucopolissacaridose: estudo da ocorrência, tipo e grau de perda auditiva
(Universidade Federal de São Paulo (UNIFESP), 2011-01-26)
Purpose: the mucopolysaccharidosis are a group of diseases caused by a deficiency in the lysosomal enzymes involved in the metabolism of mucopolysaccharides. Inherited metabolic diseases are caused by inborn errors of ...
Implementação e padronização de técnicas de dosagem enzimática para detecção de doenças de depósito lisossômico
(Universidade Federal de São Paulo (UNIFESP), 2009-02-27)
Objectives: To implement and to standardize enzymatic activity techniques using dried blood spots on filter paper for the enzymes -galactosidase A, for the diagnosis of Fabry Disease patients; -iduronidase, for the ...