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Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
(Blackwell Munksgaard, 2004-09-01)
This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and ...
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 ...
Experiencia anestésica de los pacientes con mucopolisacaridosis llevados a cirugía en la Fundación Cardioinfantil
Mucopolysaccharidosis (MPS) is a genetic disease that alters tissue morphology, generating functional and anatomical alterations. This explains why they represent a population group with a high risk of airway difficulties ...
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 ...