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Compound heterozygous variants of MTHFR presenting as treatable leukodystrophy with reversible visuospatial deficits.

Arkaprava ChakrabortyAdreesh MukherjeeSumanta SarkarSouvik DubeyGoutam Gangopadhyay
Published in: Acta neurologica Belgica (2022)
Keyphrases
  • working memory
  • copy number
  • early onset
  • traumatic brain injury
  • dna methylation