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AADC deficiency publication digests


On this page you can access selected publication digests about aromatic L-amino acid decarboxylase (AADC) deficiency symptoms, screening approaches, diagnosis, management and clinical outcomes.

Click on the links below to access the full publication digests.

 From infancy to adulthood

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

Pearson TS, et al.  J Inherit Metab Dis. 2020;43(5):1121–30.

Publication Date | May 2020
Authors | Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L.
Citation | J Inherit Metab Dis. 2020;43(5):1121–30.

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Welcome to AADC Insights

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

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