Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency
Author:
Funder
School of Medicine, Shanghai Jiao Tong University
Innovative Research Team of High-level Local University in Shanghai
National Natural Science Foundation of China
Publisher
Elsevier BV
Reference11 articles.
1. The focal dystonias: current views and challenges for future research;Jinnah;Mov. Disord.,2013
2. AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients;Pearson;J. Inherit. Metab. Dis.,2020
3. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet J. Rare Dis.,2017
4. Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: clinical phenotype, molecular spectrum, and therapy overview;Dai;Molecular Genetics & Genomic Medicine,2020
5. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations;Himmelreich;Mol. Genet. Metabol.,2022
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