Juvenile tay sachs disease due to compound heterozygous mutation in Hex-A gene, with early sign of bilateral tremors
Author:
Publisher
Medknow
Subject
Neurology (clinical)
Reference11 articles.
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2. Identification of novel mutations in HEXA gene in children affected with tay sachs disease from India;Mistri;PLoS One,2012
3. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported;Maegawa;Pediatrics,2006
4. Temporary efficacy of pyrimethamine in Juvenile-Onset Tay-Sachs disease caused by 2 unreported HEXA mutations in the Indian population;Udwadia-Hegde;Child Neurol Open,2017
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1. Lysosomal storage disorders: from biology to the clinic with reference to India;The Lancet Regional Health - Southeast Asia;2023-02
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