Literature DB >> 1652391

Sialidosis type I: first report in the Indian population. A clinical, biochemical and electrophysiological study.

A I Bhigjee1, A R Seebaran, E M Petersen, P L Bill.   

Abstract

Sialidosis type I has been described in several ethnic groups but to the best of our knowledge has not been reported in Indian families. We report on the clinical, biochemical and electrophysiological features in three siblings born to parents of South Indian origin. The diagnosis was missed for two years as they were labelled as cases of Ramsay-Hunt Syndrome.

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Year:  1991        PMID: 1652391     DOI: 10.1016/0303-8467(91)90050-y

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


  1 in total

1.  Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Authors:  Prajnya Ranganath; Vishakha Sharma; Sumita Danda; Madhusudan R Nandineni; Ashwin B Dalal
Journal:  Indian J Med Res       Date:  2012-12       Impact factor: 2.375

  1 in total

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