Literature DB >> 15473282

Sialidosis type I (cherry red spot-myoclonus syndrome).

Sutapa Ganguly1, Rajesh U Gabani, Sandeep Chakraborty, S B Ganguly.   

Abstract

Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last 2 years and gradual impairment of vision since last one year is presented with a brief review of the literature.

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Year:  2004        PMID: 15473282

Source DB:  PubMed          Journal:  J Indian Med Assoc        ISSN: 0019-5847


  2 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

2.  Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Authors:  Rosario Mosca; Diantha van de Vlekkert; Yvan Campos; Leigh E Fremuth; Jaclyn Cadaoas; Vish Koppaka; Emil Kakkis; Cynthia Tifft; Camilo Toro; Simona Allievi; Cinzia Gellera; Laura Canafoglia; Gepke Visser; Ida Annunziata; Alessandra d'Azzo
Journal:  J Clin Med       Date:  2020-03-04       Impact factor: 4.241

  2 in total

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