Doença de Tay-Sachs: um relato de caso

Doença de Tay-Sachs: um relato de caso

Introdução: a doença de Tay-Sachs (DTS) é uma doença autossômica recessiva neurodegenerativa, com início na infância, sendo caracterizada pelo retardo no desenvolvimento, seguido de paralisia, demência e cegueira. É causada por uma mutação no gene HEXA, identificado no cromossomo 15q23-q244, que é r...

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Bibliographic Details
Main Authors:	Marta Wey Vieira, Maria Silian Mandu da Fonseca, Ana Claudia Santos Junqueira Franco, Barbara Werner Griciunas
Format:	Article
Language:	Portuguese
Published:	Pontifícia Universidade Católica de São Paulo 2014-10-01
Series:	Revista da Faculdade de Ciências Médicas de Sorocaba
Online Access:	http://revistas.pucsp.br/index.php/RFCMS/article/view/21015

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