Mucopolissacaridose tipo I: avaliação de um novo instrumento para classificação fenotípica

Mucopolissacaridose tipo I: avaliação de um novo instrumento para classificação fenotípica

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Introdução: A mucopolissacaridose tipo I é comumente classificada em três síndromes clínicas (Hurler, Hurler-Scheie e Scheie), de acordo com a gravidade do fenótipo. Devido à alta heterogeneidade da doença e à sobreposição de sintomas em pacientes, alguns autores consideram esta forma de classificaç...

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Bibliographic Details
Main Author:	Federhen, Andressa
Other Authors:	Giugliani, Roberto
Format:	Others
Language:	Portuguese
Published:	2012
Subjects:	Mucopolissacaridose I Iduronidase : Deficiência Mucopolysaccharidosis type I Hurler syndrome Hurler-Scheie syndrome Scheie syndrome Alpha-L-iduronidase deficiency
Online Access:	http://hdl.handle.net/10183/52961

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