Aromatic l‐amino acid decarboxylase deficiency in Taiwan

Abstract Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investigated the epidemiology of AADC deficiency in T...

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Bibliographic Details
Main Authors: Wuh‐Liang Hwu, Rai‐Hseng Hsu, Mei‐Hsin Li, Hui‐Min Lee, Hui‐An Chen, Ni‐Chung Lee, Yin‐Hsiu Chien
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12387