Literature DB >> 30006889

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.

Vykuntaraju K Gowda1,2, Varunvenkat M Srinivasan3, Maya Bhat4, Asha Benakappa3.   

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Year:  2018        PMID： 30006889     DOI： 10.1007/s12098-018-2741-x

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  2 in total

1.  Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

Authors:  A Tanaka; M Fujimaru; K Choeh; G Isshiki
Journal:  J Hum Genet       Date:  1999       Impact factor: 3.172

2.  The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Authors:  Peter D Stenson; Edward V Ball; Katy Howells; Andrew D Phillips; Matthew Mort; David N Cooper
Journal:  Hum Genomics       Date:  2009-12       Impact factor: 4.639
  2 in total
  1 in total

1.  Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Authors:  Vykuntaraju K Gowda; Priya Gupta; Narmadham K Bharathi; Maya Bhat; Sanjay K Shivappa; Naveen Benakappa
Journal:  J Pediatr Genet       Date:  2020-10-19
  1 in total

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