Doença de Tay-Sachs: relato de caso

Doença de Tay-Sachs: relato de caso

RESUMO A doença de Tay-Sachs é um distúrbio neurodegenerativo autossômico recessivo, o qual envolve o metabolismo dos lipídios, levando ao acúmulo de gangliosídeos nos tecidos, devido à deficiência da enzima hexosaminidase A. Esse depósito progressivo resulta em perda da função neurológica e, quando...

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Bibliographic Details
Main Authors:	Pérola Grupenmacher Iankilevich, Léa Grupenmacher Iankilevich, Anah Julia Bento Andreoli Gonçalves, Isadora Antunes, Larissa Gemballa, Rafael Victor Mierzwa
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Oftalmologia 2023-04-01
Series:	Revista Brasileira de Oftalmologia
Subjects:	Doença de Tay-Sachs Hexosaminidase A/genética Doenças metabólicas Manifestações oculares Manifestações neurológicas
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802023000100506&tlng=pt

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