Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene

Lignende værker

• Mutations Causing Childhood Ataxia with Central Nervous System Hypomyelination Reduce Eukaryotic Initiation Factor 2B Complex Formation and Activity
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• Clinical and Radiological Profiles, Treatment, and Outcome of Pediatric Acquired Demyelinating Disorders of Central Nervous System
  af: Gowda, Vykuntaraju K., et al.
  Udgivet: (2019)
• Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation
  af: Gowda, Vykuntaraju K., et al.
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• Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India
  af: Gowda, Vykuntaraju K., et al.
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• Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene
  af: Gowda, Vykuntaraju Kammasandra, et al.
  Udgivet: (2021)