Publication: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: A case series and literature review

This case series, published in the European Journal of Paedriatics, explores the clinical presentation and diagnostic pathway for 16 patients with aromatic L-amino acid decarboxylase (AADC) deficiency in the Middle East. This report is the largest series of patients with confirmed AADC deficiency from this region reported to date

  • Discover the range of symptoms that 16 patients with AADC deficiency presented with
  • Explore the AADC deficiency diagnostic journey for the case series
  • Learn more about current management options for AADC deficiency and remaining unmet needs

Abukhaled M, et al. Eur J Pediatr. 2023;182(6):2535–2545

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