Tay-Sachs disease: B1 variant.

doi:10.1016/0887-8994(88)90026-4

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Article

Tay-Sachs disease: B1 variant.

Pediatric neurology - 1 Jan 2000

Gordon B A, Gordon K E, Hinton G G, Cadera W, Feleki V, Bayleran J, Hechtman P

Abstract excerpt

This first child of non-Jewish parents had nystagmus at 4 months of age, bilateral cherry-red macular spots at 7 months of age, and hyperacusis at 8 months of age; the patient has deteriorated progressively following a clinical course typical of Tay-Sachs disease B variant. Total beta-N-acetylhex...

Topics

Female
Hexosaminidase A
Humans
Infant
Mutation
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

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