Doença de Tay-Sachs: relato de caso

Author:

Iankilevich Pérola GrupenmacherORCID,Iankilevich Léa GrupenmacherORCID,Gonçalves Anah Julia Bento AndreoliORCID,Antunes IsadoraORCID,Gemballa LarissaORCID,Mierzwa Rafael VictorORCID

Publisher

Revista Brasileira de Oftalmologia

Subject

Ophthalmology,Surgery,General Medicine

Reference9 articles.

1. Prenatal diagnosis of Tay-Sachs disease;Zhang;Methods Mol Biol,2019

2. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation;Dersh;Mol Biol Cell,2016

3. New approaches to tay-sachs disease therapy;Solovyeva;Front Physiol,2018

4. 4 Toro C, Shirvan L, Tifft C. HEXA disorders. 1999 Mar 11 [updated 2020 Oct 1]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301397.

5. 5 Ramani PK, Sankaran BP. Tay-Sachs disease. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022.

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