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Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.

Harini PavuluriAlfiya FRamshekhar N MenonSruthi S NairSoumya Sundaram
Published in: Indian journal of pediatrics (2022)
Keyphrases
  • young adults
  • early onset
  • replacement therapy