Literature DB >> 11596975

Tay-Sachs disease: from clinical description to molecular defect.

M M Kaback1, R J Desnick.   

Abstract

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Year:  2001        PMID： 11596975     DOI： 10.1016/s0065-2660(01)44065-x

Source DB:  PubMed          Journal:  Adv Genet        ISSN： 0065-2660            Impact factor:   1.944


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  2 in total

Review 1.  Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

Authors:  Elena Chiricozzi; Natalia Niemir; Massimo Aureli; Alessandro Magini; Nicoletta Loberto; Alessandro Prinetti; Rosaria Bassi; Alice Polchi; Carla Emiliani; Catherine Caillaud; Sandro Sonnino
Journal:  Mol Neurobiol       Date:  2013-12-20       Impact factor: 5.590

2.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822
  2 in total

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