Literature DB >> 1132610

Tay-Sachs disease: case reports with emphasis on chromatographic study of rectal biopsy.

J G Rao, V Rama, K Srinivas, K Valmikinathan.   

Abstract

Two South Indian Hindu children with typical clinical features compatible with Tay-Sachs disease are presented. The identification of GM2 as the major ganglioside in the lipid extract of rectal biopsy helped to confirm the clinical diagnosis.

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Year:  1975        PMID: 1132610     DOI: 10.1111/j.1469-8749.1975.tb03475.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  1 in total

1.  Tay-Sachs disease.

Authors:  G K Malik; P N Saksena; G C Rastogi; R Shukla; I Wakhlu
Journal:  Indian J Pediatr       Date:  1979-11       Impact factor: 1.967

  1 in total

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