Alcaptonúria (ocronose): relato de dois casos Alkaptonuria (ochronosis): report of two cases

A alcaptonúria (ocronose) é um erro inato do metabolismo da fenilalanina e tirosina, transmitido de forma autossômica recessiva. Resulta da deficiência completa da enzima ácido homogentísico oxidase (HGO), causada por mutação no gene 3q (3q21 - q23), levando ao acúmulo do ácido em diversos órgãos e...

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Bibliographic Details
Main Authors:	Letícia R. Brandão, Brunela P. Borjaille, Tatiana M. Hasegawa, Renata F. Rosa, Elaine Azevedo, Wiliam H. Chahade
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Reumatologia 2006-10-01
Series:	Revista Brasileira de Reumatologia
Subjects:	ocronose alcaptonúria artropatia ocronótica ochronosis alkaptonuria ochronotic artropathy
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0482-50042006000500014

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