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Article

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.

Journal of inherited metabolic disease - 1 Sept 2020

Pearson Toni S, Gilbert Laura, Opladen Thomas, Garcia-Cazorla Angeles, Mastrangelo Mario, Leuzzi Vincenzo, Tay Stacy K H, Sykut-Cegielska Jolanta, Pons Roser, Mercimek-Andrews Saadet, Kato Mitsuhiro, Lücke Thomas, Oppebøen Mari, Kurian Manju A, Steel Dora, Manti Filippo, Meeks Kathleen D, Jeltsch Kathrin, Flint Lisa

Abstract excerpt

Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via...

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Identifiers

PMID: 32369189
DOI: 10.1002/jimd.12247
PMCID: PMC7540529

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