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Article

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2005

Neudorfer Orit, Pastores Gregory M, Zeng Bai J, Gianutsos John, Zaroff Charles M, Kolodny Edwin H

Abstract excerpt

PURPOSE: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. METHODS: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The...

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PMID: 15714079
DOI: 10.1097/01.gim.0000154300.84107.75

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