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Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

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Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been… Click to show full abstract

Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide.

Keywords: acid decarboxylase; aromatic amino; amino acid; decarboxylase deficiency

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020

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