Burden of illness in aromatic l‐amino acid decarboxylase deficiency

Abstract Objectives Deficiency of aromatic l‐amino acid decarboxylase (AADC), a key enzyme in monoamine synthesis, is an ultrarare disorder of monoamine synthesis estimated to affect fewer than 50 patients in the United States, although rates of misdiagnosis may be high. In its severe form, this con...

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Bibliographic Details
Main Authors: Melissa L. DiBacco, Jordan Hinahara, Thomas F. Goss, Phillip L. Pearl
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Annals of the Child Neurology Society
Subjects:
Online Access:https://doi.org/10.1002/cns3.20010