Literature DB >> 30941624

Sialidosis Type 1: Giant SSEP and Novel Mutation.

Sanjeev Kumar Bhoi1, Menka Jha2, Suprava Naik3, Gyatri Devi Palo2.   

Abstract

Entities:  

Year:  2019        PMID： 30941624     DOI： 10.1007/s12098-019-02936-1

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


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  5 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.

Authors:  Vykuntaraju K Gowda; Varun M Srinivasan; Naveen Benakappa; Asha Benakappa
Journal:  Indian J Pediatr       Date:  2017-01-31       Impact factor: 1.967

3.  Electroencephalographic studies myoclonus.

Authors:  H Shibasaki; Y Yamashita; Y Kuroiwa
Journal:  Brain       Date:  1978-09       Impact factor: 13.501

4.  Elevated antimeasles antibody titre: An association in autoimmune encephalitis.

Authors:  S R Chandra; Thomas Gregor Issac; Mariamma Philip; A Krishnan
Journal:  J Neurosci Rural Pract       Date:  2015 Oct-Dec

5.  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
  5 in total
  1 in total

1.  Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.

Authors:  Lan-Xiao Cao; Ying Liu; Zhao-Jun Song; Bao-Rong Zhang; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2021-01-26       Impact factor: 1.337
  1 in total

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