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Tay-Sachs disease: case report

Lima, André Tigre; Aragão, Ricardo Evangelista Marrocos de; Menezes, Igor Costa; Mesquita Filho, Pedro Marques de; Menezes, Lívia Studart de

Objectives: Report a case of Tay-Sachs disease. Methods: A complete ophthalmologic examination, retinography and blood dosage of hexosaminidase A (EHA) activity were performed. Results: A one year and seven months old male with a history of generalized tonic-clonic seizures, with delayed neuropsychomotor development from the eighth month of life. At the ophthalmologic examination the patient did not fix or foll...

Date: 2020   |   Origin: Oasisbr
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