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There are a number of resources that can help with the diagnosis of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

Publications


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  • Diagnosis Guide This guide contains helpful information that can assist in diagnosing AADC Deficiency in patients with unexplained symptoms

Links

  • MNG Laboratories PTC Therapeutics is supporting no-cost AADC Deficiency testing through a partnership with MNG Laboratories. MNG Laboratories provides diagnostics through clinical services, complex biochemical and molecular testing, and whole genome and exome sequencing for a range of neurological and mitochondrial disorders
  • The International Working Group on Neurotransmitter Related Disorders provides valuable information for healthcare professionals, patients, and families

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