Aromatic L-amino acid decarboxylase deficiency in Taiwan.

Abstract excerpt

BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis. It has unique clinical presentations. AIMS: The purpose of this study is to delineate the clinical features and molecular spectrum of AADC deficiency in Taiwanese infants and children. METHODS: We report eight patients with characteristic clinical manifestations of AADC...

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