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Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.

Neerja GuptaMounika EndrakantiMeenakshi BhatNivedita RaoRavneet KaurMadhulika Kabra
Published in: Indian journal of pediatrics (2023)
This study cohort had MMA cblC subtype as the most common type of MMA followed by the MMA mutase defect. Outcomes in MMA are influenced by the type of molecular defect, age, and severity of presentation. Early detection and management is likely to result in better outcomes.
Keyphrases
  • single molecule
  • type diabetes
  • metabolic syndrome
  • insulin resistance
  • weight loss
  • soft tissue